The Miller-Dieker

syndrome

By: Dewsandi
 • J.M.D, male, 2 months old, born to non-inbred
parents,has 4 healthy siblings. Born at term,
vaginal delivery. J.M.D presented an episode of
isolated cyanosis in the left upper limb after the
first hours of postpartum, and his
echocardiography had no abnormalities.
CLINICAL
CASE: • Mother attended 6 prenatal consultations,
syphilis in the 3rd trimester of pregnancy was
treated, upon admission to the maternity ward,
with 3 doses of Benzathine Penicillin, and her
husband received the same treatment. The
mother’s VDRL before treatment was 1:32.
• The newborn’s VDRL at birth was 1:32. His long bones radiograph was normal.
• J.M.D presented an episode of isolated cyanosis in the left upper limb after the first
hours of postpartum, and his echocardiography had no abnormalities.
• Two days later, J.M.D evolved with episodes of fever, initially focal seizures that later
generalized. Laboratory tests found hyperkalemia of 6.8 mmol/L and sodium within
normal limits.
• Non-contrast-enhanced computed tomography (CT) of the brain, which found
lissencephaly and agyria, magnetic resonance imaging (MRI) of the cranium showed a
disorder of cortical development characterized by lissencephaly appearance in the
frontoparietal and pachygyria regions of the temporal lobes, as well as commissural
dysgenesis and dysmorphic aspect of the nuclei and the brainstem, with pons hypoplasia
• On physical examination, J.M.D was hypoactive, with significant axial hypotonia and no palmar
and plantar reflexes. Morphological examination showed epicanthus, flat nasal base, small,
anteverted nostrils, lower sloping eyelids, bitemporal narrowing.

• The urinary tract ultrasonography was within normal parameters.

• J.M.D evolved with persistent episodes of focal-type seizures, all lasting approximately 10
seconds.

• The patient under study has a characteristic MDS phenotype. This diagnosis was considered due
to the presence of facial dysmorphia typical of the syndrome, and delayed neuropsychomotor
development (as shown in the next slide)
•MDS is mainly associated with
lissencephaly, where the cerebral cortex
is thick and has no gyrus. In some areas
of the brain, the gyrus is smaller but
wider and shallower than normal, called
pachygyria, and in other brain areas the
absence of such gyrus, called agyria or
complete lissencephaly may occur.
PEDIGREE
 • Miller-Dieker syndrome is caused by a deletion of genetic
material near the end of the short (p) arm of
chromosome 17. The signs and symptoms of Miller-
Dieker syndrome are probably related to the loss of
multiple genes in this region. The size of the deletion
varies among affected individuals.
ETIOLOGY
AND • Miller-Dieker syndrome has been reported to have an
autosomal recessive pattern of inheritance.
INCIDENCE
• Most cases of Miller-Dieker syndrome are not inherited.
The deletion occurs most often as a random event during
the formation of reproductive cells (eggs or sperm) or in
early fetal development. Affected people typically have
no history of the disorder in their family.
• When Miller-Dieker syndrome is
inherited, its inheritance pattern is
considered autosomal dominant because
a deletion in one copy of chromosome
17 in each cell is sufficient to cause the
condition. About 12 percent of people
with Miller-Dieker syndrome inherit a
chromosome abnormality.
• MDS is undoubtedly a rare condition
with a reported estimate of 1 cases per
100 000 live births, although incidence
and prevalence are probably higher.
PATHOGENES
IS
 Miller-Dieker syndrome affects your child’s physical
and mental development. The smoother their
brain, the more severe the symptoms.

CLINICAL • Breathing problems.

• Developmental delays.
SYMPTOM • Difficulty swallowing

S • Feeding problems.
• Low muscle tone
• Seizures.
• Slow physical growth.
 • Low-set, unusually shaped ears.
PHYSICAL • Prominent forehead.
• Small, upturned nose.
SYMPTOM • Sunken middle part of the face (midface
S hypoplasia).
• Wide upper lip and small jaw.
 DIAGNOSIS
-A prenatal ultrasound may detect
abnormal brain development or
other signs of Miller-Dieker
syndrome during pregnancy.
-Your healthcare provider may
perform a genetic amniocentesis
to test amniotic fluid for genetic
changes that may indicate Miller-
Dieker syndrome OR you may have
chorionic villus sampling (CVS) to
test cells from your placenta.
TREATMENT
• There isn’t a cure for Miller-Dieker
syndrome. The condition is fatal.
Treatments focus on alleviating
symptoms like seizures to keep
your child comfortable. Because
feeding and swallowing can be
difficult, your child may need tube
feeding (enteral nutrition).
NEW INFORMATION on prenatal diagnosis of Miller Dieker ( from an article
published may 2022)
 • https://my.clevelandclinic.org/health/diseas
es/22746-miller-dieker-syndrome
• https://cdn.publisher.gn1.link/residenciapedi
References atrica.com.br/pdf/en_v10n1a09.pdf
• https://pubmed.ncbi.nlm.nih.gov/
35567955/
THANK YOU