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www.onlinembbs.com PAEDIATRICS 33
• A deep plantar crease (‘sandal gap’) between the first • Initially a child with Down may be hypotonic, but the early
and second toe may also be a helpful diagnostic sign. developmental milestones are eventually reached.
• Hypothyroidism is common
• The ultimate IQ ranges from 20 to 75 with a mean

• Atrioventricular canal and ventricular septal defects are around 50. The earlier assessment of development tends
the commonest types of cardiac lesion seen. to be more favorable than the formal measurement of IQ
in later childhood .
– Is associated with Alzhiemers dementia.
Intellectual function shows a decline with age and this

has been attributed to a presenile dementia.
• Triple test is done for Downs syndrome.

• usually performed at 15 to 18 weeks of gestation
• Intestinal atresia, in particular duodenal atresia • The Triple Test: measures three markers - hCG, AFP and
• “Leukemia (CML)is also common uE3
- Transient myeloproliferative disorder is seen.
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• Maternal non disjunction is the cause. • The feet show a ‘rocker bottom’ appearance like the shape
of the runners of a rocking chair
- A variety of congenital malformations are present.
• Anomalies of the gastrointestinal tract are particularly
common, e.g. intestinal atresias, malabsorption and
exomphalos
• Renal abnormalities are also frequent with renal hypopiasia

or cystic dysplasia being one of the commoner and more
Other causes of Mental retardation: serious abnormalities.
— Fragile X syndrome • Congenital heart defects, ocular abnormalities and neural
— Homocystinemia tube defects can also occur.
— Phenylketonuria • Most specific marker for neural tube defects is acetyl
— Tuberous sclerosis choline esterase.
• TRISOMY 18 (EDWARDS’ SYNDROME)

- There is often polyhydramnios and intrauterine growth
retardation.
- The cranium is long and narrow with a prominent occiput.
The ears are low set and frequently underdeveloped.
TRISOMY 13 (PATAU’S SYNDROME)
• The affected children show intr aut erine growth
• The facies characteristically shows micrognathia and narrow retardation.
sloping palpebral
• There may be marked microcephaly.
fissures.
• Structural malformations of the brain are common and
this may alter facial development, instead of two cerebral
• The hands are clenched with the second and
hemispheres with lateral ventricles, a single forebrain with
fifth fingers overlapping the third and fourth fingers.
a single ventricle may form. This malformation sequence
• There may be other flexion deformities.
is known as holoprosencephaly.
• The nails are hypoplastic.
The process alters the development and separation of
optic vesicles from the forebrain and the migration of the
median process from the forehead to form the nose. In
its most extreme form the optic vesicles may fuse to give
cyclopia.
Marked hypotelorism with a small nose and cleft lip and
palate. Ocular abnormalities such as microphthalmos
are common, often reflecting the underlying cerebral
abnormality.
- In the hands, postaxial polydactyly is frequent.
- Flexion contractures and ‘rocker bottom’ feet may also
be present. Scalp defects may be helpful diagnostically as
they rarely appear in other abnormalities. Internally, in
addition to cerebral malformations, renal and cardiac
abnormalities are also frequent
• 4p - (WOLF-HIRSCHHORN) SYNDROME
The features include
- Microcephaly,
- hypertelorism,
- low set simple ears,
- coloboma cleft palate .renal abnormalities, heart defects
and intrauterine growth retardation.
- The facial features (are described as resembling a Greek
helmet since the flat nasal bridge appears to run in • DELETIONS OF 13q
continuity from the glabella in much the same - Deletions of 13q14 are associated with retinoblastoma.
way that the protective nose piece is incorporated into a - They also characteristically have hypoplastic thumbs and
Greek helmet. anal atresia..
• DIGEORGE SYNDROME 22q11 DELETION

- Different names, e.g. Velocardiofacial syndrome or CATCH
22 syndrome.
- Absence of thymus/ Hypoplasia of Thymus and Parathyroid
- About 75% of patients with 22q11 deletion will have
significant congenital heart defects.
• 5p - (CRI DU CHAT) SYNDROME

• It derives its name from the striking cat-like cry that is
heard in infancy.
• This cry is related to the hypoplastic larynx and tends to
lessen with increasing age and growth of the larynx.
• In the newborn the face is round with microcephaly,
micrognathia and down-slanting palpebrai fissures. With
further growth the microcephaly remains but the face
becomes long and narrow.
• Survival into adult life with severe mental retardation has
frequently been described.
18q - syndrome
- The cardinal features are intrauterine growth retardation,
profound mental retardation and a ‘carp-shaped mouth’. The range of defects is wide but tetralogy of Fallot and
- Cleft palate, heart defects and ocular defects are also abnormalities in the main arteries are most frequently seen
common. Genital hypoplasia may occur.
- Serum immunoglobulin A (IgA) is decreased in about • Hypocalcemia may also occur and is a cause for fits.
half the affected individuals. • Other feature is severe immunodeficiency with T cell
depletion.
About 50% of patients will have defects of the palate. This • Prader-Willi syndrome usually presents with neonatal
is often velopharyngeal insufficiency rather than overt cleft hypotonia wi th feeding difficulties and in males
palate. undescended testes.
• Angelman syndrome presents with severe developmental
delay, inappropriate laughter and complex seizures.
• Prader-Willi syndrome is due to paternal deletions

• Angelman syndrome is due to maternal deletions.
WILLIAMS SYNDROME
• It was initially referred to as infantile hypercalcemia as the
biochemical change was the usual presentation, ‘elfin
facies’,
• short stature,
• supravalvular aortic stenosis,
• hyperacusis SEX CHROMOSOME ABNORMALITIES
• developmental delay TURNER’S SYNDROME
• At birth there is lymphedema especially in the dorsum of
ANGELMAN SYNDROME AND PRADER-WILLI the hand
SYNDROME • Hydrops and cystic hygroma are seen in utero and may
occasionally be present in the neonate.
• Although these are very different clinical disorders it is • There is a short stature
important to consider these together as they can both
be due to deletions of chromosome 15 and illustrate
an important biological principle known as genetic
imprinting
• It appears that both paternal and maternal chromosome
15s are required in early embryonic development and that
paternal and maternal chromosome 15q12 have different
functions.
• Thus genetic imprinting may be defined as the
determination of gene expression depending on the
parental origin.
• there may be redundant skin over the back of the neck.

“(sequestration of jugular lymph sacs)
• webbed neck with low posterior hairline.
• The chest is shield shaped with widely spaced nipples.
• The carrying angle at the elbow is increased (cubitus
valgus).
• Finger deformities
• Coarctation of the aorta may also be present.
• renal tract abnormalities, which include horseshoe kidneys
and duplex ureters,
• At puberty it may present for the first time with primary
amenorrhea and failure of secondary sexual development.
• Streak gonads are found with u ltr asound and at
laparotomy.
47XXX
• The majority of girls with triple X (47XXX) will not have
been brought to medical attention and have had their
chromosomes tested. However prospective studies have
identified some potential differences.
• Their height tends to be greater than average and
in statistical terms there is a slight lowering of mean IQ
but no specific abnormal behavioral patterns.
• Fertility is normal
• The patients are almost invariably sterile, but menstruation

and secondary sexual development may be induced by
estrogen replacement
• Short fourth metacarpal
• have a normal life span.
• patients with Turner’s syndrome have a 45X0 karyotype
• KLINEFELTER’S SYNDROME (47XXY)
Klinefelter’s syndrome of
• gynecomastia,
• small atrophic testes and
• absent spermatogenesis (azoospermia) in,phenotype
mates
• MC cause of hypergonadotrophic hypogonadism
• Turners syndrome patients are prone to develop:

- hypertension
- diabetes
- thyroid disorders
- osteoporosis
- colon cancer
- autoimmune disorders
is associated with an abnormal karyotype (47XXY).
Causes of Primary Testicular failure:

• Klinefelter’s syndrome
• Reifensteins syndrome
• Kallaman Syndrome
• Kennedy disease
• ACTH deficiency
At puberty, however, the secondary sexual characteristics

develop poorly and body fat tends to take on a feminine
distribution with gynecomastia in 50% of cases.
- Beard growth is minimal and in adult life patients will rarely
need to shave more than twice a week.
- The testes remain small and infertility may be the
presenting feature in adult males. Sexual function is normal
-although the libido is reduced.
- The testosterone levels are low and the gonadotrophin
levels elevated and testosterone replacement may be
helpful,
Klinefelter’s syndrome
The biopsy shows small hyalinized seminiferous tubules
and pseudo-adenomatous clusters of leydig cells .
Causes of Secondary Testicular failure:

• Trauma
• Mumps orchitis
• Leprosy orchitis
• Cryptorchidism
• Irradiation to Testis
• Hydrocele
• Varicocele
• spermatocele
• Testicular histology shows an increase in

Leydig cells and interstitial fibrosis.
• Height is usually increased with relatively long limbs
• sub normal intelligence.
• FRAGILE X Syndrome)
• It is now recognized as the second commonest cause of
mental retardation in males after Downs
• large forehead,
- large head,
- prominent chin and
- long ears.
• Fragile X males have a

• Fragile X males tend to be larger at birth
• Macro-orchidism is present The size of the testes may
be considerably enlarged. CMV
There is a slight increase in the frequency of mitral valve can present in a dramatic form with jaundice and petechiae,
prolapse, aortic root dilatation and hernias. the ‘blueberry muffin’ baby.
More striking clinically is the soft skin and joint Most babies who are symptomatic at birth will be
hypermobility, which may be helpful diagnostically. handicapped.
• The range of intellectual handicap in fragile X males varies Only small % of babies born with congenital CMV infection
but most are moderately to severely retarded. are symptomatic, however, most babies being clinically
unaffected by the infection.
Varicella zoster can result in severe damage with cicatricial

skin scarring, cataracts and seizures.
Herpes simplex virus can result in severe illness in newborns.
There is a high incidence of meningitis and encephalitis.
Human immunodeficiency virus
This retrovirus can cause meningitis and encephalopathy.
Neurological manifestations include encephalopathy and
microcephaly.
TORCH INFECTIONS
• The acronym TORCH has been used to summarize the
infections Toxoplasma , rubella, CMV and herpes to
which should be added human immunodeficiency virus
and varicella zoster.
Rubella
Rubella infection in the first 16 weeks of pregnancy can result
in a severely damaged baby with
• cataracts
• sensorineural deafness,
• congenital heart disease(PDA), ASD, VSD, PDA
• microcephaly
• hepatosplenomegaly and
• thrombocytopenia.
The condition is preventable by achieving high immunization

coverage.
Extensive Varicella rash The classic is of hydrocephalus, chorioretinitis and intracranial
calcification is seen
This is Hemorrhagic Varicella (Chickenpox) in a newborn. The

infant died of disseminated Varicella involving most of the • MC Manifestation: chorioretinitis
organ systems.
Syphilis:
Early Congenital syphilis
• Snuffles or rhinitis is the early feature.
• Vesico bullous lesions ( not found in any other variety of
syphilis)
• Snail track ulcers on oral mucosa
Toxoplasma gondii
• This protozoan can cause neurological sequelae when
acquired in uterine life and the diagnosis is important
because the condition is treatable.
• The organism is mainly acquired from cat litter or
consumption of undercooked meat.
Late Congenital Syphilis

- Hutchinsons triad (Hutchinsons teeth +8th Cranial nerve
deafness+ Interstitial Keratitis)
- Moon’s molars, and maldevelopment of the maxilla resulting
in “bulldog” facies are typical
• Saddle nose
• Sabre Tibia
• Mulberry Molars
• Rhagades (The infant may fail to thrive and have a

characteristic “old man” look, with fissured lesions around
the mouth {rhagades) and a mucopurulent or blood-
stained nasal discharge causing snuffles.)
• Never forget:
• Cataract, deafness, IUGR, • Rubella

Patent Ductus Arteriosus
• Chorioretinitis, Intra cerebral • T oxoplasmosis
calcification, jaundice*
• Chorioretinitis, • CMV
Periventricular
manifestations, Microcephaly
• Limb hypoplasia, Cutaneous • Varicella
scar, microcephaly, cataract
Jaundice in Pediatrics
Causes of “Unconjugated” hypeibilirubenemia are
• Criggler najar Syndrome I, Criggler najar Syndrome
• Frontal bossing of Parrot • Hemolytic anemia
• IgM FTA ABS best diagnoses congenital syphilis • Physiological jaundice
• Hypothyroidism
• Breast milk jaundice
• Excessive RBC Destruction (Rh incompatibility,G6PD
Deficency, Spherocytosis, Vitamin K, Sulfamethaxozole)
Peroistitis (Higouménakis’ sign)

Higouménakis’ sign is a unilateral enlargement of the
sternoclavicular portion of the clavicle, seen in congenital
syphilis. It’s an end result of neonatal periostitis.
Causes of “Conjugated” hyperbilirubenemia are; • In kernicterus Unconjugated Bilirubin is increased.
• Parenchymal diseases( Rubella, Toxoplasmosis, CMV, Herpes • In kernicterus staining of brain is more in Basal Ganglia
infection)
• Neonatal hepatitis syndrome
• Biliary atresia (Intrahepatic/ Extrahepatic)
• Choledochal cyst
• Dubin Johnson syndrome, Rotor syndrome
• Commonest cause in new born : idiopathic infantile
hepatitis
- With increasing bilirubin levels, visible jaundice advances

in a head-to-foot direction.
The green discoloration of the child’s teeth is the result of

severe hyperbilirubinemia. the child’s bilirubin levels had been
elevated above 20 mg/dL for 5 months.
Jaundice appearing on the first day in any newborn and a

bilirubin concentration >10 mg/dL in premature infants or
>15 mg/dL in full-term infants warrant investigation. MC Cause of jaundice in a new born within 24 hours is
Erythroblastosis Fetalis
Physiological jaundice usually appears on 3 rd day and
disappears by 7 th day
• Breast milk jaundice is due to pregnandiole
• When the blood level of bilirubin is about 4 to 5 mg/

dL, jaundice becomes apparent.
• Physiological Jaundice: Typical feature in liver histology is the appearance of giant
- Jaundice not present on day1 cells,
- Total bilirubin level’rises < 5 mg/dl/day.
- Total bilirubin does not exceed 13 mg/dl in term infants
and 15 mg/dl in preterm infants
- Jaundice should not last more than one week in term
infant or 2 weeks in preterm infant.
• Causes of Prolonged neonatal jaundice

- Hypothyroidism
- Galactosemia
- Alpha 1 antitrypsin deficiency
- Tyrosinemia • Conditions with similar features clinically & historically
- GH Deficiency - Alpha 1 antitrypsin deficiency
- Alagille syndrome
Gilberts Syndrome: - Byler disease
• Common, benign, inherited condition - Viral infections
• UNCONJUGATED hyperbilirubenemia
• Common in males.
• decreased UDP glucoronyl transferase activity
• Normal LFT.
• Normal liver histology
• Stress fatigue, alcohol use, decreased caloric intake,
illness increase serum bilirubin.
Alagilles syndrome :
• Alagilles syndrome is an Autosomal dominant (AD) disorder.
• There is an error in development of bile ducts, heart, CNS
and face.
• Neonatal intrahepatic cholestasis and hepatosplenomegaly
with xanthomas with Teratology of Fallot and Coarctation
of Aorta are a feature.
Idiopathic Neonatal Hepatitis.:

• also known as Giant Cell Hepatitis
• It is a Cholestatic jaundice in nature.
• Cause is unknown
• Among all cases of Intrahepatic Cholestasis it accounts
about 50% cases. (MC )
• Supplementation of VIT A, D,E,K and Ursodeoxycholic acid

is initially used for treatment.
• Liver transplant is selectively used
• A liver biopsy may indicate too few bile ducts (bile duct
paucity).
• Esophageal atresia: A blind pouch of the esophagus with a fistula from
• Frequently present with severe respiratory distress and the lower esophageal segment connecting with the
excessive salivation. trachea; this is the most common type and accounts for
• Choking, coughing, and cyanosis are often encountered 86 percent of cases.
on the first attempted feeding.
Infants with an associated TE fistula may also develop
acute gastric dilatation due to air entering the distal
esophagus and stomach with each inspired breath.
- As most neonates have an incompetent lower esophageal

sphincter, this ultimately leads to reflux of gastric acid
through the fistula into the tr acheobronchial tree,
producing aspiration and chemical pneumonftis.
• Infants with esophageal atresia without a TE fistula have

mothers with polyhydramnios.
• Approximately 33% of these infants are low birth weight,
and 60 to 70% have associated anomalies (gastrointestinal,
cardiac, genitourinary, musculosketetal, and central
nervous system).
There are five recognized anatomic variants of esophageal

atresia
• Proximal esophageal atresia with a distal TE fistula (Most
Common )
• Proximal esophageal atresia without a TE fistula
• An H type TE fistula without esophageal atresia
• Proximal esophageal atresia with a proximal TE fistula
• Proximal esophageal atresia with a double (proximal and
distal) TE fistula
• Posteroanterior chest radiograph taken at 10 hours of life

in a neonate with suspected esophageal atresia.
• Note that the nasogastric tube has coiled in the
proximal esophageal pouch (solid arrow).
• The prominent gastric bubble (open arrow) supports
the presence of a concurrent tracheoesophageal fistula.
The presence of bowel gas refutes the possibility
of duodenal atresia.
Gastroesophageal reflux (GER):
• Common in in fants and children wit h neurologic
impairment,
• Dysfunction of the lower esophageal sphincter may also
be observed in children with scleroderma, familial
• dysautonomia, Cornelia de Lange’s syndrome, myotonic
dystrophy, and nemaline myopathy of infancy.
• In addition, 10% of patients have the VAT ER

association, nonhereditary concurrence of anomalies
including vertebral or vascular defects, anal anomalies, TE
fistula, esophageal atresia, and radial limb or renal anomalies.
Infants with apnea and bradycardia and children with

chronic pul monary conditions due to asthma,
bronchopulmonary dysplasia, and cystic fibrosis represent
an additional group of patients with significant GER.
- The diagnosis of esophageal atresia is not difficult to

confirm. Attempted passage of a firm red-rubber catheter
through each naris (to rule out choanal atresia)
demonstrates the level of esophageal atresia by coming
up against an obstruction.
- A frontal and lateral chest x-ray confirms the location of
the tube in the blind proximal pouch.
• GER has also been implicated as an etiologic factor in the

sudden infant death syndrome (SIDS).
• Infants at high risk of GER are those with congenital • The common presentation of symptomatic GER includes
anomalies, including esophageal atresia with or without failure to thrive, vomiting, and repeated episodes of
TE fistula, and those in whom tight closure of the respiratory infection due to aspiration of gastric contents.
abdominal wall following repair of omphalocele and • Diagnosis can be achieved by a number of tests, including
gastroschisis is associated with increased abdominal barium esophagram with fluoroscopic control, lower
pressure. esophageal sphincter manometrics, gastric scintigraphy,
24-hour pH-probe measurements, and esophagoscopy.
Delayed gastric emptying is observed in 25 to 50% of
cases.
• GER is also common in disorders associated with

diaphragmatic distortion, such as eventration,diaphragmatic
hernia, and severe diaphragmatic elevation due to a large
upper abdominal m ass, which may alter the
esophagogastric angle.
• Medical therapy includes the administration of antacids, H

2-blockers and omeprazole, and parasympathomimetic and
prokinetic agents (bethanechol, metoclopramide, and
cisapride).
• In infants, small frequent feedings and occasionally
nasojejunal feedings are useful.
Predisposition:
- Dysfunction of the lower esophageal sphincter,
- Reduced length of the sphincter,
- Disordered esophageal motility,
- Poor esophageal clearance, and
- Delayed gastric emptying
Keeping infants in a head-up position on an

incline board reduces the risk of reflux.
• Indications for operative intervention include The underlying defect results from one of a number of
continued failure to thrive, persistent vomiting, repeated possible mutations, in a chloride transporter protein
episodes of respiratory infection, the presence of Barrett’s which lines ductular epithelium.
sophagus esophagjtis (with blood-tinged or coffee-round
vomitus), and stricture.
A number of antireflux operations are used to treat GER.

These include • As a result abnormal sweat chloride test. Lung is normal
• Nissen fundoplication procedure (360-degree wrap), at birth
• Thai procedure, • This results in inspissation of mucus in the
• Dor modification of the Nissen (270-degree) procedure, • ducts of the pancreas and in the bronchial and biliary trees
• Hill repair, with the resulting develop ment of pancr eatic
• Toupet procedure, and insufficiency, chronic respiratory disease and biliary
• Anterior plication of Boix-Ochoa. cirrhosis.
• Causes intractrable diahorrea in children .
The Most popular antireflux oper ation is the Nissen
fundoplication procedure.
CYSTIC FIBROSIS
• Cystic fibrosis is an autosomal recessive condition
• Pancreatic insufficiency : The inspissated concretions result

in distension of the ducts and acini of the pancreas which
with time progress to the formation of small cysts with
– destruction and fibrosis of the exocrine tissue. As a
consequence of this the output of pancreatic enzymes
and bicarbonate falls, leading to pancreatic insufficiency.
• Patients with cystic fibrosis have pancreatic insufficiency
with resulting malabsorption and steatorrhea.
• Gastrografin enema will reveal a microcolon distal to the

obstruction
Burkholderia cepacia complex:

• is an important gro up of pathogens in
immunocompromised hosts, notably those with cystic
fibrosis (CF) or chronic granulomatous disease .
• Lung infections with B. cepacia complex in certain patients
with CF result in rapidly progressive, invasive, fatal
bacteremic disease
• B. cepacia rarely affects people with healthy immune
systems, but people with poorly functioning immune
systems and lung disease including those with cystic fibrosis
- are at risk for acquiring it
SHWACHMAN’S SYNDROME
• This autosomal recessive condition is characterized by the
presence of neutropenia with impairment of neutrophil
function.
• The diagnosis should be considered in any child with
pancreatic insufficiency, a normal sweat test and
neutropenia.
• (Mucoviscidosis; Fibrocystic Disease of the Pancreas;

Pancreatic Cystic Fibrosis)
CF is carried as an autosomal recessive trait.

- It encodes a membrane-associated protein called the
cystic fibrosis transmembrane conductance regulator
(CFTR).
- Nearly all exocrine glands are affected in varying distribution
and degree of severity
• CAUSES OF NEONATAL OBSTRUCTION: Congenital

Meconium ileus atresias:
• Fibrosis may present in the first day or two of life with – Duodenal (me)
vomiting and abdominal distension due to meconium – Jujenal
ileus, (mucoviscidosis) – Ileum
• This obstruction to the small intestine with thick tenacious – Colonic
meconium may be complicated by volvulus, atresia or • Arrested rotation
peritonitis. • Meconium ileus
• Plain abdominal X-ray will show dilated loops of intestine • Hirshsprungs disease
with meconium, outlined by trapped air, present in the • Volvolus neonatorum
obstructed segment of bowel and*”
• An omphalocele is usually covered by a sac composed of

the fused layers of amniotic membrane and
peritoneum. The sac may rupture ante-, intra- or
postpartum.
Exomphalos
• Exomphalos (omphalocele) is a herniation of intra-
abdominal contents through the umbilical ring into the
umbilical cord.
• Defects less than 4 cm in diameter are classified as
Exomphalos m inor .There are r arely associated
abnormalities in this group.
Gastroschisis
• Gastroschisis is a complete defect through all layers of
the anterior abdominal wall extending up to about
3 cm in length and usually lying to the right of a normally
attached umbilical cord .
• The etiology is unknown. Almost all the small and large
bowel are eviscerated through the small defect - in most
instances from stomach to rectum inclusive.
- Other organs are rarely apparent. The eviscerated bowel
- Exomphalos major, on the other hand, commonly has is markedly thickened, apparently foreshortened, matted
coexisting abnormalities and a defect greater than 4 cm together and often covered with a confluent gelatinous
in diameter, presumably arising through failure of layer like ‘gut in aspic
development of the anterior abdominal wad prior to
herniation of the midgut loop.
- In a large defect, not only the intestines (small and large)
herniate but also the liver, spleen, stomach, bladder and
even ovaries and fallopian tubes in the female. Incomplete
or malrotation of the bowel is common and the associated
abnormalities often include cardiac defects; 20% of cases
are anencephalic.
In the Beckwith- Wiedemann syndrome ther e is

exomphalos, macroglossia and gigantism. The baby
is large for his gestational age with an exomphalos, a big
tongue and large solid viscera. There is also a facial nevus
flammeus in the center of the forehead and odd
indentations in the ear lobe There may also be pancreatic
hyperplasia leading to severe neonatal hypoglycemia.
Reyes syndrome • In Liver Peripheral zonal hepatic necrosis is seen.
• Reyes syndrome is the best known example of Secondary • Liver is yellow, enlarged with diffuse microvacuolization of
mitochondrial hepatopathy. cells.
• MitochondriaI changes include: • In Renal tubules, fatty changes in renal tubular cells are
– Microvesicular steatosis seen.
– Swelling of mitochondrial matrix • In brain cerebral edema and neuronal degeneration are
– Dissolution of cristae/ appearance of granules seen.
– Ameboid shapes • It usually occurs in children .
• Patients have a history of recent viral Upper Respiratory
tract infection or varicella.
• R eyes syndrome is an encephalopathy with fatty • Adeno, herpes, influenza are common precipitant.
degeneration of liver, • Use of aspirin also leads to Reyes syndrome.
• Hypoglycemia
• Ammonia: Ammonia level as high as 1.5 times normal (up
to 1200 mcg/dL) 24-48 hours after the onset of mental
status chang es is the most frequen t labor atory
abnormality. Ammonia level may return to normal in stages
4 and 5.
• Transaminases levels: ALT and AST levels increase to 3
times normal but may return to normal by stages 4 or 5.
Gross autopsy specimen of liver from child who died of Reye’s

syndrome.
Cut surface shows slight pallor due to fat accumulation in
liver cells.
• Bilirubin: Bilirubin levels are >2 mg/dL (usually < 3 mg/dL)

in 10-15% of patients. If direct bilirubin level is >15%
of total or total is >3 mg/dL, consider other
diagnoses other than Reys syndrome.
Wilsons disease
• is an AR disorder.
• Chromosome 13 is involved.
• The diagnosis is confirmed by the demonstration of either

a serum ceruloplasmin level <20 mg/dL and Kayser-
Histopathology of autopsy liver from child who died of Reye’s Fleischer rings or a serum ceruloplasmin level <20 mg/dL
syndrome. and a concentration of copper in a liver biopsy sample
Hepatocytes are pale-staining due to intracellular fat droplets. >250 ug/g dry weight.
Approach to the diagnosis of Wilson disease (WD) in a paitent

with unexplained liver disease.
KF = Kayser-Fleischer ring; CPN = ceruloplasmin.
Pathogonomic features are:

• Hepatic dysfunction: “Jaundice,
• Hepatomegaly, Cirrhosis, Portal hypertension
• Eye Changes:
– Brownish or grayish Kayser Fleisher ring in Descements
membrane in cornea.
– These golden deposits of copper in Descemet’s membrane
of the cornea do not interfere with vision but indicate
that copper has been released from the liver and has
probably caused brain damage.
Wilson with Chronic Active hepatitis
• If a patient with frank neurologic or psychiatric disease

does not have Kayser-leischer rings when examined by a
trained observer using a slit lamp , the diagnosis of
Wilson’s disease can be excluded.
• Rarely, Kayser-Fleischer rings may be accompanied by
sunflower cataracts.
• Most symptomatic patients excrete >100 micgm copper

per day in urine and have histologic abnormalities on liver
biopsy.
• The neurologic manifestations include resting and intention
tremors, spasticity, rigidity, chorea, drooling, dysphagia,
and dysarthria.
– Babinski responses may be present, and abdominal reflexes
are often absent.
• Sensory changes never occur, except for headache

• Psychiatric disturbances are present in most patients
with neurologic symptoms.
Schizophrenia, manic-depressive psychoses, and classic
neuroses may occur, but the commonest disturbances
are bizarre behavioral patterns that defy classification
• Treatment consists of removing and detoxifying the

• deposits of copper as rapidly as possible and must be
instituted once the diagnosis is secure whether the
patient is ill or asymptomatic.
- Zinc is the DOC .
- Penicillamine
- Trientine.
- Zinc acetate or gluconate are effective as maintenance
therapy,

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• The ultimate IQ ranges from 20 to 75 with a mean

Intellectual function shows a decline with age and this

• Triple test is done for Downs syndrome.

• Renal abnormalities are also frequent with renal hypopiasia

• TRISOMY 18 (EDWARDS’ SYNDROME)

• DIGEORGE SYNDROME 22q11 DELETION

• 5p - (CRI DU CHAT) SYNDROME

• Prader-Willi syndrome is due to paternal deletions

• there may be redundant skin over the back of the neck.

• The patients are almost invariably sterile, but menstruation

• Turners syndrome patients are prone to develop:

Causes of Primary Testicular failure:

At puberty, however, the secondary sexual characteristics

Causes of Secondary Testicular failure:

• Testicular histology shows an increase in

• Fragile X males have a

Varicella zoster can result in severe damage with cicatricial

The condition is preventable by achieving high immunization

This is Hemorrhagic Varicella (Chickenpox) in a newborn. The

Late Congenital Syphilis

• Rhagades (The infant may fail to thrive and have a

• Cataract, deafness, IUGR, • Rubella

Peroistitis (Higouménakis’ sign)

- With increasing bilirubin levels, visible jaundice advances

The green discoloration of the child’s teeth is the result of

Jaundice appearing on the first day in any newborn and a

• Breast milk jaundice is due to pregnandiole

• When the blood level of bilirubin is about 4 to 5 mg/

• Causes of Prolonged neonatal jaundice

Idiopathic Neonatal Hepatitis.:

• Supplementation of VIT A, D,E,K and Ursodeoxycholic acid

- As most neonates have an incompetent lower esophageal

• Infants with esophageal atresia without a TE fistula have

There are five recognized anatomic variants of esophageal

• Posteroanterior chest radiograph taken at 10 hours of life

• In addition, 10% of patients have the VAT ER

Infants with apnea and bradycardia and children with

- The diagnosis of esophageal atresia is not difficult to

• GER has also been implicated as an etiologic factor in the

• GER is also common in disorders associated with

• Medical therapy includes the administration of antacids, H

Keeping infants in a head-up position on an

A number of antireflux operations are used to treat GER.

• Pancreatic insufficiency : The inspissated concretions result

• Gastrografin enema will reveal a microcolon distal to the

Burkholderia cepacia complex:

• (Mucoviscidosis; Fibrocystic Disease of the Pancreas;

CF is carried as an autosomal recessive trait.

• CAUSES OF NEONATAL OBSTRUCTION: Congenital

• An omphalocele is usually covered by a sac composed of

In the Beckwith- Wiedemann syndrome ther e is

Gross autopsy specimen of liver from child who died of Reye’s

• Bilirubin: Bilirubin levels are >2 mg/dL (usually < 3 mg/dL)

• The diagnosis is confirmed by the demonstration of either

Approach to the diagnosis of Wilson disease (WD) in a paitent