Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A term infant developed subcutaneous fat necrosis of the newborn (SFNN) 17 days following completion of therapeutic hypothermia for hypoxic ischaemic encephalopathy. Initial calcium was normal, however hypercalcaemia requiring hyperhydration and furosemide developed at 4 weeks. Parathyroid hormone and vitamin D were suppressed. At 13 months, she remains on low calcium formula, and has gross motor delay, central hypotonia and early hand preference. Review of 102 articles yielded 119 SFNN cases. Asphyxia was reported in 78%. Twenty-one per cent had hypoglycaemia. Twenty per cent underwent therapeutic hypothermia. Median onset of skin lesions was day 6 (range: 1-70), with a median duration of 62 days (range: 14-390). Hypercalcaemia developed in 53% (median onset day 28, range: 1-210). Fifty-two per cent of hypercalcaemia was asymptomatic. Outcome information was provided in 106/119 cases; 87% reported a full resolution. Persistent calcinosis was present in 6%. Babies treated with therapeutic hypothermia should be closely monitored for SFNN, and development of hypercalcaemia.
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PMID:Subcutaneous fat necrosis of the newborn. 3184 70

Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological entity characterized by subcortical vasogenic edema presenting with acute neurological symptoms. Common precipitating causes include renal failure, pre-eclampsia/eclampsia, post-organ transplant, and cytotoxic drugs. Hypercalcemia is a rare cause of PRES; most cases occur in the setting of severe hypercalcemia secondary to malignancy or iatrogenic vitamin D/calcium overdose. Primary hyperparathyroidism (PHPT), as a cause of PRES, is an oddity. We report two cases of adolescent PHPT presenting with generalized tonic-clonic seizures and altered sensorium. On evaluation, both had hypertension, severe hypercalcemia (serum calcium 14.1 mg/dL and 14.5 mg/dL, respectively) and elevated parathyroid hormone levels. Magnetic resonance imaging (MRI) revealed T2/fluid-attenuated inversion recovery hyperintensities located predominantly in the parieto-occipital regions, suggestive of PRES. Identification and excision of parathyroid adenoma led to the restoration of normocalcemia. Neurological symptoms and MRI changes improved subsequently. An extensive literature search revealed only four cases of PHPTassociated PRES; none of them being in the pediatric/adolescent age group. The predominant clinical manifestations were seizures and altered sensorium. All had severe hypercalcemia; three had hypertension at presentation, while one was normotensive. Parathyroid adenomectomy led to normalization of serum calcium and resolution of neurological symptoms and radiological changes. Thus, severe hypercalcemia, although rare in PHPT, can lead to hypercalcemic crisis precipitating acute hypertension that can result in cerebral endothelial dysfunction with the breakdown of the blood-brain barrier, culminating in PRES. We therefore recommend that serum calcium levels should be checked in all patients with PRES and that PHPT be regarded as a differential diagnosis in those with underlying hypercalcemia.
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PMID:Primary Hyperparathyroidism Presenting as Posterior Reversible Encephalopathy Syndrome: A Report of Two Cases 3212 57


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