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Spontaneous periodic hypothermia

Orpha number ORPHA29822
Synonym(s) Episodic spontaneous hypothermia
Shapiro syndrome
Prevalence Unknown
Inheritance
  • Unknown
Age of onset Variable
ICD-10
  • G90.8
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.

The prevalence is unknown but to date more than 50 cases of spontaneous periodic hypothermia have been described in the world literature.

SPH can occur at any age (ranging from 6 months to 62 years). The clinical manifestations of the disease comprise recurrent episodes of hypothermia (core temperature <35°C) with profuse sweating, nausea and vomiting, that occur in the absence of any detectable infectious or endocrine cause. Periodicity of hypothermic episodes may range from hours to years and the episodes themselves may last from hours to weeks. The sensation is usually experienced as a ''funny feeling'' in the head and is described as powerful, consuming and combined with a sense of weakness, incoordination and gait unsteadiness. Additional features include drowsiness, deep sleep, hypothermic syncope, mild bradycardia, and pale and cool skin. There are usually no associated complaints of diarrhea, confusion, wheezing, rash, seizure activity, shivering or shakiness. Polyuria and polydipsia during the attacks have been described in only one case. Recurrent hypothermia attacks were reported in two siblings.

The exact pathophysiological mechanism for this syndrome is still not understood. Postulated mechanisms include hypothalamic dysfunction, neurochemical abnormalities, inflammatory processes, and epileptic activity.

Diagnosis includes physical and systemic examinations which show a pale, cold skin and normal blood count and electrolyte levels. Imaging studies may in some cases reveal confluent lesions in the corpus callosum and a circumscribed lesion in the right posterior thalamus. 5-hydroxyindoleacetic acid (5-HIAA) and homovanillic acid (HVA) levels in cerebrospinal fluid may be below the normal ranges. Hypermelatoninemia may be observed.

Differential diagnosis of SPH includes the use of antipsychotics drugs with a strong 5-HT2 antagonistic component, severe hypothyroidism, hypoglycemia or attacks of diabetic ketoacidosis.

There is no cure for SPH. Management is mainly supportive and includes re-warming with a warm blanket. Carbamazepine, clonidine, cyproheptadine, glycopyrrolate, bromocriptine, chlorpromazine, beta1 blockers or sympathectomy are used with varying responses.

SPH is a benign disease and may cease spontaneously. Some patients have been reported to have hyperthermia attacks during the course of the disease.

Expert reviewer(s)

  • Dr Ozgur DUMAN

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