Dr Adeena D S, Dr Praveena N B, Dr Natasha Radhakrishnan, Dr Vaishakh Anand DrC Jayakumar
AIMS KOCHI
Three year old girl from Bangladesh, presented with failure to gain weight since 7 months of age.
1st child of non consanguineous marriage born term, weighing 3.5 kg and was exclusively breastfed until 6 months and was started on complementary rice and wheat feeds
From 7 months of age she had intermittent vomiting following food intake that persisted throughout the day. She weighed 6 kgs at 6 months of age and was the same at 1 year of age. At 2 years, she received empiric ATT for 6 months. She had a reasonably good appetite and had adequate calorie intake. Her upper GI endoscopy reports were normal. Developmentally normal child except for a mild motor delay, she could run but unable to climb stairs.
Neurological history like visual disturbances, nasal regurgitation of feeds, facial asymmetry, ptosis, abnormal eye movements, weakness of any limbs or cognitive decline were negative
Other than vomiting H/O GI problems like abdominal pain, altered bowel habits, blood in stools were absent
Examination was emaciated but alert
and interactive child has mfine multi
directional nystagmus and frontal
bossing with stable vitals
Weight:8.5kg(<-3 SD), height:88 cm(at -2 SD), HC 50 cm(0-1 SD)
No pallor/ organomegaly/ skin or nail changes / perianal tags.
Other CNS findings were mild hypotonia, normal deep tendon reflexes, flexor plantar with no other cerebellar signs.
Other system examination was normal.
Investigations showed normal counts. Creatinine 0.8 mg/L, normal LFT . TFT normal.
Ultrasound abdomen was normal study. Coeliac workup was negative.
Preop serology negative.
ECHO ruled out structural heart disease.
Ophthalmological examination done in view of the nystagmus showed bilateral optic atrophy.
In view of her FTT, persistent vomiting and optic atrophy, MRI brain with contrast was done that showed a large predominantly solid, enhancing, suprasellar lesion with involvement of optic chiasm/hypothalamus, causing obstructive hydrocephalus, s/o optico-chiasmatic glioma. Thus a diagnosis of Diencephalic syndrome was made.
Endocrine evaluation prior to starting treatment showed normal cortisol, IGFBP3 and thyroid function. Child underwent radiotherapy and shunt surgery.
Diencephalic syndrome is a rare cause of failure to thrive in children and should be considered as a differential in an intellectually normal child presenting with FTT despite normal or high calorie intake and preserved linear growth. Associated symptoms include vomiting, vision loss, nystagmus, hydrocephalus, hypoglycemia and hypotension. Ophthalmological evaluation often reveals pappiledema, optic atrophy. Imaging studies should be performed even if there are no neurological symptoms. Treatment options include surgical intervention, chemotherapy and radiotherapy.
TAKE HOME MESSAGE
Though a rare but potentially morbid condition, Pediatricans should have a high and early index of suspicion of CNS neoplasm as a cause of unexplained FTT and unexplained vomiting in children
