Madam I am paediatrician. 8 year boy was admitted for weakness of all four limbs. Initially, he had frequent falls and an unsteady gait due to weakness of the distal muscles of his lower limbs. Within two weeks, there was rapid progression of the weakness to involve his proximal and trunk muscles so that he could neither move his limbs nor get up from his bed. He was anorexic, lethargic and not conversing. The bladder and bowel functions were normal. There was no history of preceding trauma, fever or seizures. The child appears developmentally normal and well nourished. Upon asking about the diet, the mother bursts out crying saying she is doing her best and even feeding him raw eggs every alternate day for the past one year for extra nutrition. On examination, the child appeared dull and had mask like faces. He had emotional liability and responded only to painful stimuli. The cranial nerves and optic fundii were normal. He had generalized hypotonia for the first two days followed by rigidity. Deep tendon reflexes were exaggerated. Ankle clonus and Babinski’s sign were noted bilaterally. His sensory system was normal. Please suggest diagnosis and management. Answer:- As per your given reports boy suffering from Biotin responsive basal ganglia disease (BBGD). BBGD characterized by sub acute encephalopathy, dysarthria and dysphagia with occasional supranuclear facial nerve palsy or external ophthalmoplegia, and progressing to severe cogwheel rigidity, dystonia and quadriparesis. Brain MRI of these patients revealed specific bilateral necrosis in the head of the caudate nucleus and in the putamen. In view of the similar clinico-radiological picture and therapeutic response to biotin as noted in our case, BBGD was the most probable diagnosis in the 8 year old boy presented here. However, a known predisposing factor (raw egg consumption for one year) cannot be disregarded as coincidental. Dietary biotin deficiency produces many symptoms not seen in patients with BBGD, such as dry skin, seborrheic dermatitis, fungal infections and erythematous periorifacial macular rashes. Absence of these symptoms in patients with BBGD suggests that sufficient biotin is available in all regions except the brain. The caudate neurodegeneration evident in patients with BBGD suggests that striatal neurons may be particularly susceptible to a lack of adequate biotin. The most common basal ganglia disorders with motor symptoms include Wilson’s disease, Hallervorden-Spatz disease, Juvenile Hunting-ton’s disease, L-dopa-responsive dystonia, idiopathic torsion dystonia of childhood, childhood onset parkinsonism and benign acute neurological dysfunction associated with destructive lesions of the basal ganglia. This biotin-responsive basal ganglia disease is different in many respects from the aforementioned diseases. Other extrapyramidal tract diseases with mitochondrial involvement or Leigh’s subacute encephalomyelopathy usually show either peripheral or CSF lactic acidosis, optic atrophy and other signs of a mitochondriopathy, such as delayed peripheral nerve conduction time. Biotinidase and multiple carboxylase deficiencies have different cortical lesions on MRI. The neurological symptoms in this basal ganglia disease disappear within a few days of biotin (5-10 mg/kg/day) administration. However they may reappear within 1 month if biotin is discontinued. Biotin deficiency should be considered in children with acute onset extra pyramidal symptoms and quadriplegia as it can be easily managed without further neurological deterioration. Early molecular diagnosis of BBGD is particularly important to prevent basal ganglia damage, since the progression of the pathology and of the clinical course of symptoms can be prevented simply by the administration of biotin.
Posted on: Mon, 01 Dec 2014 02:18:19 +0000
Trending Topics
Recently Viewed Topics
© 2015