CASE STUDIES AND SUCCESS STORIES ON FUNCTIONAL

NEUROSURGERY IN AFRICA

Functional neurosurgery techniques remain integral to the neurosurgical

treatment armamentarium(1) and in comparison to Western countries, Africa
majorly suffer from an increased prevalence of diseases like epilepsy, which
may be amenable to functional techniques, and therefore, may benefit from an
increased utilization of these treatment modalities (1). Diseases that may be
effectively treated through the use of functional and stereotactic neurosurgery
include epilepsy, Parkinson’s disease, and even some psychiatric disorders,
among others. Case reports highlighting the success stories of functional
neurosurgical interventions in Africa are sparsely distributed, most likely due to
the difficulty in implementation resulting from expensiveness for patients and
low-middle income countries.

Cases in which functional neurosurgical interventions demonstrated positive

impact on the quality of life and outcome of patients include Deep Brain
Stimulation (DBS) in 3 related cases of North Sea Progressive Myoclonic
Epilepsy in patients from South Africa (2). The case is that of white Afrikaans
family from eastern South Africa with three members affected with North Sea
progressive myoclonus epilepsy, resulting from a homozygous autosomal
recessive founder GOSR2 mutation (c.430G>T, p.Gly144Trp). All three subjects
presented with ataxia, tremor, early gait difficulties, and myoclonic and
generalized tonic clonic (GTC) epilepsy. Each patient underwent deep brain
stimulation of the caudal Zona Incerta.

Case 1 is a male, first seen at 10 years of age. He was born prematurely at 33

weeks and required 3 weeks of assisted ventilation, had normal developmental
milestones, walked at 13 months, and he did well academically and continues to
do so. At 3 years of age he developed an upper limb tremor, and at 5 years he
developed myoclonus. His first GTC seizure was at the age of 6 years and he
was treated with carbamazepine. Despite medical treatment, his seizures
worsened, as did his tremor and balance, and he also developed absence
seizures. His family reported a GTC seizure every 2 to 3 months, absence
seizures at a rate of 1 to 2 per week, and persistent myoclonus. Bilateral DBS
surgery of the cZI was performed at the age of 9 years for the progressively
worsening “jerking.” The family reported that the DBS significantly improved
his balance, and the myoclonus was reduced to a few episodes per day. Since
the surgery, the family has not observed any GTC or absence seizures. On
examination at presentation he had no nystagmus and preserved smooth pursuit
of eye movements with full range. He had frequent spontaneous myoclonus that
was augmented by sound and touch. A symmetrical action tremor was found in
all four limbs and he had dysdiadochokinesis. No reflexes could be elicited but
he had normal sensation. While the DBS was on, the EEG showed intermittent
generalized sharp and slow waves 3 to 4 Hz in 20% of the awake recording.
These increased in stages 1 and 2 of sleep. Polyspikes were seen in
approximately 10% of the awake recording accompanying the slow waves and
he had not had a GTC for more than 7 years (2)

Case 2 is a female who presented at 30 years of age. She reported that she
struggled with sports as early as 5 years and had jerking at 7 years of age. Her
first GTC seizure was at the age of 8 years. She has been in a wheelchair since
the age of 11 because of her balance problems. Cognition is normal and she
completed secondary schooling. Case 3 is the younger sister of case 2 and
presented to us at 27 years of age. She had struggled to walk, had frequent
injuries, and was wheelchair bound before the age of 10 years. Myoclonus
started at about 3 years and she had her first GTC seizure at 5 years of age. A
scoliosis was diagnosed before puberty and required surgery at the age of 17.
Both cases presented to our unit were being treated with carbamazepine. This
was changed to sodium valproate at presentation, which reduced their
myoclonus subjectively.

Both patients had DBS surgery to the cZI before presentation for functional
neurosurgical intervention. Case 2 was implanted at 26 years and case 3 at 24
years of age. In case 2 there was a reported reduction in her GTC seizures from
several per month to one every 3 to 4 months and there was improvement in
upper limb tremor, and in her sister's case there was a subjectively reported
improvement of the seizures from 5 to 7 per month to 3 to 5 per month.
Summarily, in each case there was a reduction in GTC seizures, and two
patients exhibited a reduction in involuntary movements, as evaluated during
long-term follow-up. In one case there was an improvement in gait and stance
when assessed while the stimulation was on.

Another case scenario is that of a 72-year old female who presented with a 30
year history of hand tremor diagnosed as essential tremor (3). She was
refractory to medications including beta-blockers, primidone, gabapentin,
clonazepam and mirtazapine. She also developed adductor SD at age 64 and
received regular botulinum toxin type A (BoNTA) injections with moderate
results. Chronic BoNt-A injections, however, made her voice severely
hypophonic and high-pitched for a few weeks following each injection. Just
prior to DBS surgery, she had a moderate postural tremor and mild resting
tremor of both hands, as well as a moderate adductor SD with vocal tremor.
Bilateral thalamic DBS was performed using the COMPASS® stereotactic
system and the Medtroinc® DBS electrodes. The surgical procedure was
performed under local anesthesia, with intravenous administration of minimal
amounts of conscious sedation and analgesic medications. A magnetic
resonance (MR)-compatible frame was applied to the patient’s head and MR
imaging was performed using a 1.5 tesla machine. The thalamic target was
chosen in the ventralis intermedius (Vim) nucleus. Six months following DBS
surgery, the patient rated her hand tremors as 100% improved, and her SD 75%
improved. Blinded ratings of voice and laryngo-videostroboscopic examinations
were performed, comparing stimulators ON versus stimulators OFF. With the
stimulators OFF, the voice was rated as moderate SD with moderate to severe
vocal tremor. This case demonstrates the beneficial of effects of bilateral
thalamic DBS for both essential tremor of the hands and Adductor Type
Spasmodic Dysphonia (AdSD) of the vocal cords, thereby improving the quality
of life of the patient.

Another noteworthy case scenario is that of a consanguineous family of

Moroccan Origin, with two affected siblings with suspicion of a movement
disorder pathology later diagnosed to be Choreoacanthocytosis. The index
patient IV.2 is a 32-year-old woman who presented during the last 2 years
gradual onset of involuntary upper limb choreiform movements spreading to the
whole body with trunk spasms and gait disturbance. Symptoms have worsened
few months later by the appearance of oromandibular dystonia as jaw-opening
dystonia, tongue protrusion hindering her from eating and talking. Patient
developed later self-mutilation by biting of the tongue, lips and forearms,
vocalizations and psychiatric disorders such as depression and compulsive
behaviours. Neurological examination showed otherwise areflexia, generalized
hypotonia and scars of lip and forearm biting. The score of mini-mental status
examination was 22/30 and Montreal cognitive assessment was 19/30 showing
cognitive impairment especially frontal lobe dysfunction. Sixty percent of
acanthocytes were detected in peripheral blood smear test (Fig. 2a), and serum
CK, LDH, AST and ALT levels were normal. Magnetic resonance imaging
(MRI) showed bilateral and symmetrical striatal atrophy and
electroneuromyography (ENMG) was normal. The proband received
Haloperidol 1,5 mg three times daily, trihexyphenidyl 5 mg three times daily
and baclofen 10 mg four times daily for 1 year but without improvement.
Therefore, a bilateral GPI DBS has been performed because of the dramatic
worsening of the symptoms and the ineffectiveness of drugs. At the 2 months
follow up review, a response rate of 60% was expressed by the patient and her
family. The tongue protrusion disappeared allowing the patient to eat on a
sitting position, and to speak more clearly. The self-injuring has lessened to
only the lip biting and a gain in posture, gait and in the sitting ability were
noticed. However, the foot dystonia persisted. She is more autonomous, able to
perform domestic chores alone.

Despite the overall success of functional neurosurgical procedures, there

remains variability in treatment outcome in both short and long-term follow-up,
due to various factors. Typically, factors contributing to variability in outcome
comprise 'Dystonia Related' including dystonia classification, semiology,
duration, body distribution, orthopaedic deformity, aetiology and genetic cause
(5). The majority of these factors are identifiable from clinical assessment, brain
MRI and genetic testing, and therefore merit careful preoperative consideration.
'DBS related' factors include brain target, accuracy of lead placement,
stimulation parameters, time allowed for response, neurostimulation technology
employed and DBS induced side-effects. Improved understanding of factors
contributing to variability of DBS outcome in dystonia may assist in patient
selection and predicting surgical outcomes.

Functional neurosurgical interventions such as DBS, Neuro-ablation and neuro-

augmentation are promising therapeutic intervention, offering relief from
symptoms and improved quality of life. The findings reveal promising
developments in DBS therapy across several African countries, particularly in
treating Parkinson's disease and dystonia (6).

References
1. Francis Fezeu , Arjun Ramesh , Patrick D. Melmer , Shayan Moosa , Paul
S. Larson , Fraser Henderson Jr. Challenges and solutions for functional
neurosurgery in developing countries DOI: 10.7759/cureus.3314
2. Anderson, D.G., Németh, A.H., Fawcett, K.A., Sims, D., Miller, J. and
Krause, A. (2017), Deep Brain Stimulation in Three Related Cases of
North Sea Progressive Myoclonic Epilepsy from South Africa. Mov
Disord Clin Pract, 4: 249-253. https://doi.org/10.1002/mdc3.12372
3. Lyons Mark K, Adler Charles H, Banserg Stephen, Evidente Virgilio
Spasmodic dysphonia may respond to bilateral thalamic deep brain
stimulation https://doi.org/10.4314/ajns.v28i1.55154
4. Ouchkat, F., Regragui, W., Smaili, I. et al. Novel
pathogenic VPS13A mutation in Moroccan family with
Choreoacanthocytosis: a case report. BMC Med Genet 21, 47 (2020).
https://doi.org/10.1186/s12881-020-0983-8
5. Tisch S. (2022). Deep brain stimulation in dystonia: factors contributing
to variability in outcome in short and long term follow-up. Current
opinion in neurology, 35(4), 510–517.
https://doi.org/10.1097/WCO.0000000000001072
6. Daghi, M., Lakhdar, A., & El Otmani, H. (2024). Deep brain stimulation
for movement disorders treatment in Africa: The current status,
outcomes, and challenges. Clinical neurology and neurosurgery, 236,
108113. https://doi.org/10.1016/j.clineuro.2023.108113