A 4-month-old child presents with excessive irritability & crying, unexplained hyperpyrexia, vomiting, difficulty feeding for last 15 days. On admission he has rigidity & visual inattentiveness; CT scan brain shows the following finding. What is the probable diagnosis?
Bilateral basal ganglia calcification is seen on CT brain in Krabbe disease. Fuher,Globoid cells are seen in microscopic exmaination,which is a diagnostic feature. C/F: Irritability, muscle weakness, feeding difficulties, episodes of fever without any sign of infection, stiff posture, and delayed mental and physical development. As the disease progresses, muscles continue to weaken, affecting the infant's ability to move, chew, swallow, and breathe. Affected infants also experience vision loss and seizures. Alexander disease- hypodensity of white matter, frontal lobe predominance Metachromatic Leukodystrophy- tigroid appearance on MRI Adrenoleukodystrophy- Hyperintense signal changes in parieto-occipital region & splenium of corpus callosum on MRI
Alexander disease
Krabbe disease
Metachromatic Leukodystrophy
Adrenoleukodystrophy
Lysosomal Storage Diseases