P87 – 2840: Establishment of rare diagnoses is possible in countries with limited resources

Abstract

Objective Globoid cell leukodystrophy is a rare autosomal recessive lysosomal storage disorder caused by the deficiency of galactocerebrosidase. Methods This report describes a case in which clinical and MRI picture lead to the direct diagnosis. Results 12 months old girl presented with loss of developmental milestones. Her development was not concerning until 4 months. Starting from that age she started to have difficulties in head control, lost emotional contact, later she started to have difficulties with swallowing and myoclonias. Examination revealed absence of head control, short fixation and eye tracking movements, spastic quadriparesis, startle myoclonic reflex to auditory stimuli, absence of TDRs from legs. NCS showed distal symmetrical demyelinating polyneuropathy. Brain MRI showed supratentorial and vermian atrophy, abnormal signal from PLIC, increased T2 signal from periventricular white matter (with sparing of subcortical U-fibers), enlargement of optic nerves and chiasm, bilateral areas of T2 hyperintensity in the dentate hilum and cerebellar white matter, hypointensity in the peridentate area. Brain CT scan was done for possible calcifications in basal ganglia (to exclude Aicardi-Goutieres syndrome), which surprisingly revealed communicating obstructive hydrocephalus. We went through the literature and found that the latter was also described in some cases of globoid cell leukodystrophy. Decreased galactocerebrosidase activity in leukocytes confirmed the diagnosis of Krabbe disease. Conclusion In developed countries this patient would undergo full metabolic screening to exclude most relevant possible diagnoses, but physicians in developing world are forced to put together clinical picture and other findings to reach to the most likely diagnosis, which is a very important step to narrow the list of differential diagnosis and costs of needed investigations.