Addison’s disease is most commonly due to autoimmune adrenalitis and tuberculosis and refers to primary hypoadrenalism caused by a total or near total destruction or dysfunction of both adrenal cortices. Usual manifestations involve chronic fatigue, muscle weakness, loss of appetite, nausea, vomiting, diarrhea, hypotension and hyperpigmentation of skin. We herein report a case of primary adrenal insufficiency presenting with fever and seizures in an 11-yr-old boy. His symptoms resolved after starting specific therapy. This kind of presentation of Addison’s disease is rather unusual.
Metachromatic leukodystrophy (MLD) is a progressive white matter disease caused by arylsulfatase A deficiency. Demyelination in the nervous system is detected by cerebral magnetic resonance imaging and neurophysiological studies. We present here a child with late infantile MLD, who had initially difficulties in standing and walking with generalized dystonia and clubfoot and later on became unable to stand and sit even with support. Protein levels in cerebral spinal fluid were elevated and nerve conduction studies revealed slowing down of motor and sensory nerve conduction velocity. Initial cerebral computerized tomography scan showed hypo dense lesion in bilateral globus pallidus. Magnetic resonance imaging was done subsequently that showed diffuse white matter signal changes. Enzyme assay for arylsulfatase A further confirmed the diagnosis of MLD. We conclude that in young children extrapyramidal symptomatology and demyelinating sensorimotor polyneuropathy may be a presenting feature of the onset of MLD.
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