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Thread: A 20 year old man presented with profuse sweating associated with a perception of extreme cold.

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    Arrow A 20 year old man presented with profuse sweating associated with a perception of extreme cold.

    Clinical Case:

    A 20 year old Turkish Cypriot man presented with an 8 month history of profuse sweating associated with a perception of extreme cold.

    He described progressive problems with speech, memory and clumsiness on walking. Symptoms of polyuria and polydipsia were associated with complete loss of appetite, to the extent he needed reminding to eat. Appetite was previously good. Abnormal patterns of sleep/wake were noted. The eldest of three children born to unrelated parents, he had a normal birth, attained normal milestones and had been fully employed.

    On examination he was normally virilised and euvolaemic. Core temperature was 33.1 degC, BP 100/70, no postural drop. He had a flattened affect, cerebellar ataxia and dysarthria.

    Investigations revealed sodium 129 mmol/l, potassium 4.5 mmol/l, glucose and renal function normal. Serum osmolality 267 mosm/kg, urine osmolality 111 mosm/kg. Anterior pituitary function tests were normal. Water deprivation test: Initial serum osmolality 270 mosm/kg rising to 277 mosm/kg after 7 hours. Urine osmolality rose from 115 mosm/kg to 455 mosm/kg, 566 mosm/kg post DDAVP. Urine volumes reduced appropriately, weight fell from 79kg to 77.8kg. CSF composition was normal. MRI showed complete agenesis of the corpus callosum with no other anomalies. EEG showed slow backgroound but no seizure activity.


    Answer / Explanation:


    The patient was treated with clonidine which has reduced episodes of hypothermia.

    Vey few cases of Shapiro's syndrome describe endocrine abnormalites. Abnormal thermoregulation is thought to be due to hypothalamic dysfunction. We suggest in our case that hypothalamic dysfunction may also cause abnormalities of water balance that mimic resetting of osmoreceptors. The significant appetite disturbance, which has not previously been described in Shapiro's syndrome may also be secondary to hypothalamic dysfunction.

    Last edited by trimurtulu; 12-18-2008 at 11:25 PM.

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