Indian Pediatrics 2003; 40:673-675
Cerebral Gigantism with West Syndrome
Cerebral Gigantism (Sotos syndrome) is an uncommon syndrome of growth accelera-tion; macrocephaly, acromegaloid features and delay in neuropsychomotor development during infancy. Syndrome delineation and differential diagnosis are based on evaluation of phenotypic characteristics and evolutive history of patients. Extensive search of literature revealed only one reported case of Sotos syndrome with West syndrome till date(1). We hereby report another case of Sotos syndrome presenting with rare manifestation of West syndrome, the first such report from India.
A one-year-old male child was brought with the complaints of sudden jerky movements of head and upper half of the body occurring in clusters since 8 months of age at a frequency of 10-50 times per day particularly after awakening from sleep. He was born of a first-degree consanguineous marriage to a 25 years old primigravida mother at term by normal vaginal delivery. He weighed 3600 g at birth and had a head circumference of 38.5 cm (>2 SD). The child had feeding difficulties during the initial few months of life. Review of his old records of anthropometry revealed a rapid increase in weight and head circum-ference. His father was 28 years of age and had an average built. All the milestones of the child were significantly delayed.
Physical examination revealed a large child with a weight of 11 kg (108% of expected for age), length of 83.5 cm. (109% of expected) and head circumference of 48 cm. The arm span was 85 cm and upper to lower segment ratio was 1.3. He had a dolico-cephalic head, prominent forehead, receding hairline, hypertelorism, high arched palate and a pointed chin. His hands and feet were large measuring 10.8 cm. (112% of expected) and 13.2 cm (106% of expected) in length respectively. Neurological examination revealed a small anterior fontanel and left concomitant convergent squint. Fundus examination was normal. There were no cranial nerve palsies. Muscle tone and deep tendon reflexes were normal. Other systemic examination was unremarkable. Denver development screening test revaled a delay in all sectors. His social quotient was 58 as determined by the Vineland Social Maturity Scale. Audiological investigations were within normal limits.
The electroencephalograph (EEG) was characterized by slow background rhythm with spikes, polyspikes and sharp waves of varying morphology and amplitude occurring in a chaotic fashion from multiple foci in both cerebral hemispheres. Skull X-ray revealed a normal sella turcica with no features of raised intracranial pressure. X-ray of wrist for bone age suggested an age of 4 years. Magnetic resonance imaging of the head revealed bilaterally dilated ventricles with increased extra axial fluid spaces in the supratentorial fossa. No other malformation was identified. Glucose tolerance test and thyroid function tests were normal. Chest X-ray, echocardio-gram and abdominal ultrasonography were normal.
A diagnosis of Sotos syndrome with West syndrome was made. His spasms showed no response to the maximal doses of anti-convulsants like valproate and clonazepam, which the child had received prior to being referred to the hospital. Oral corticosteroid (prednisolone) was thereafter tried to which the seizures initially responded but subse-quently recurred.
Cerebral gigantism (Sotos syndrome) is a rare syndrome but a well recognized cause of statural overgrowth in children. The primary characteristics of cerebral gigantism include a typical facial gestalt, excessive growth pattern in early years of life, advanced bone age and nonprogressive developmental delay(2). Unusually large hands and feet characterize this syndrome and these constitute much of the increase in stature. The arm span is greater than height in all cases. Advanced bone age and early onset of puberty in these children limit their final height(3). Thus, most of the patients with Sotos syndrome do not require any intervention to limit their final adult height.
The facial phenotype in children with Sotos syndrome is established early in life(4). The head is large and dolicephalic with a rounded prominent forehead. There is fullness of cheeks, narrowing at temples and a tapering pointed chin. Other distinctive features found in these patients are hypertelorism, anti-mongoloid slant and a high arched palate. Strabismus, nystagmus, hypermetropia and retinal degeneration are the ocular mani-festations in Sotos syndrome(5). Our case had strabismus. Congenital cardiac defects and urological abnormalities have been reported in these children(6,7]ter heterotopias and abnormalities of corpus callosum are also seen(6). The index case had ventriculomegaly and an increase of supratentorial extracerebral fluid spaces. Serial neuroimaging studies in these patients have revealed that macro-cephaly initially is due to increased volume of cerebral parenchyma itself and there- after is due to retention of cerebrospinal fluid in ventricular and subarachnoid spaces(9).
Over the years the natural history of cerebral gigantism has been elucidated but its etiology and pathogenesis remain unknown. Endocrine basis for the development of cerebral gigantism has been postulated in earlier years but lately consensus has emerged that no major endocrine abnormality is present in this syndrome(3). Pancreatic, adrenal, pituitary, gonadal and thyroid function are usually normal as are growth hormone and somatomedin, thus excluding known causes of abnormal growth.
Most reported cases are sporadic though autosomal dominant as well as recessive patterns have been described. A high rate of consanguinity (36%) has been noted among the parents(10) as was also there in our case. No affected first-degree relative could be identified in our case.
This report highlights the importance of considering Sotos syndrome in children who present with psychomotor delay, large stature and seizures including infantile spasms. Motor difficulties present in these patients in early infancy are responsible for the poor performance on IQ tests.
Contributors: All the authors were involved in management and work up of the patient. MR and PM drafted the manuscript under PSís supervision.
Competing interests: None stated.