Recurrent hypothermia with hyperhidrosis in two siblings: familial Shapiro syndrome variant

Abstract

A 21-year-old woman was referred for recurrent (up to 2 times per month) episodes of generalized hyperhidrosis and hypothermia with a core temperature fluctuating between 32 and 35°C, lasting from 2-3 h. During these attacks, the woman sweated profusely and felt faint; her skin was pale and cool and sinus bradycardia (\50 bpm) was observed. At admission, blood chemistry and cell count were unremarkable. Ictal EEGs, ECG Holter, and echocardiography were unremarkable. Brain MRI revealed the total absence of the corpus callosum (Fig. 1b). The patient had normal mental status and did not display facial dysmorphisms. No neurologic or physical abnormalities were noted. Endocrine evaluation of hypothalamic-pituitary axis, thyroid, adrenals, and gonads was unremarkable. Electroencephalograms and lack of response to anticonvulsants (levetiracetam 1,000 mg twice/day) excluded the epileptic origin of the attacks.Her 11-year-old brother suffered from episodes of hypothermia associated with pallor and profuse sweating, lasting for approximately 1 h from the age of 9 years. His axillary body temperature during the episodes was 34.5°C. These episodes recurred up to ten times per month; they occurred randomly and showed a spontaneous recovery. Possible triggering factors were not recognized by parents. On admission, the boy complained of abdominal pain and he was confused and lethargic. Clinical examination during the attack revealed hypothermia with rectal temperatures as low as 31°C.No neurologic or physical abnormalities, including facial dysmorphisms, were noted. Blood chemistry and cell count were unremarkable. Morning cortisol, prolactin, growth hormone, LH, and FSH were also normal. EEG and brain MRI were normal (Fig.

Hyperhidrosis of Central Hypogonadism Leading to Diagnosis of Shapiro Syndrome: Temperature Dysregulation, Hypothermia and Agenesis of the Corpus Callosum

“…We believe that hyperhydrosis was primarily induced by central hypogonadism in our subject since almost total remission ensued following topical testosterone therapy. This manifestation is similar to hypothalamic hypothyroidism documented in a case report [11]. It is apparent that central hypogonadism is not included as a manifestation of Shapiro Syndrome most likely because of lack of appropriate complete evaluation of hypogonadism, a well established contributor to hyperhydrosis.…”

“…Thermal dysregulation, especially hypothermia is postulated to result from changes in the set point of the hypothalamic thermostat, a distinct hypothalamic dysfunction attributed to probable structural abnormalities, e.g. degenerative changes, neurochemical dysfunction, inflammatory processes, other irritative mechanisms such as autoimmune disease or immunologic processes, and seizure activity etc [3] [8] [11] [15] [16]. .…”

Thermoregulatory Instability in Childhood: Linking the Normal Brain to Hypothalamic Storm

“…Studying all cases in the literature, Tambasco et al found that only half showed CC abnormalities [2]. In addition, Belcastro et al described a familial case of SS in two siblings, where one had ACC whereas the other had a completely normal MRI, thus suggesting that callosal dysgenesis may be a marker of other molecular or microstructural abnormalities on hypothalamic networks [6]. Also of interest, acquired corpus callosum lesions have not been associated with any thermoregulatory dysfunction and do not seem to play any role in thermoregulation.…”

The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro′s or/and reverse Shapiro′s syndrome

“…Some of the cases with Shapiro syndrome described in the literature have not been determined hormonal abnormalities. [51617] We did not perform thyrotropin releasing hormone test cause thyroid-stimulating hormone, free thyroxine were normal.…”