Basal forebrain malformation with hyperhidrosis and hypothermia: Variant of Shapiro’s syndrome

Klein, Christopher J.; Silber, Michael H.; Halliwill, John R.; Schreiner, Simone; Suárez, Guillermo A.; Low, P. A.

doi:10.1212/wnl.56.2.254

Cited by 39 publications

(23 citation statements)

References 9 publications

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“…Hypothermia is another hallmark of SS [1], this cardinal clinical feature has been observed in our and previous cases [1][2][3][4][5][6][7][8][9][10]. No single area in the brain is known to control temperature.…”

Section: Dear Sirsupporting

confidence: 62%

“…As originally reported by Shapiro et al [1], the syndrome has ACC as a hallmark. 1 Since then, at least 3 patients have been described without this anomaly and are generally considered to be a variant of the condition [5,6,8]. In our cases, although corpus callosum agenesis was observed only in one sibling, the symptoms of the male patient clearly support the same clinical diagnosis of his sister.…”

Section: Dear Sirsupporting

confidence: 59%

“…This clinical picture can occur at any age and about 50 cases have been reported [1][2][3][4][5][6][7][8][9]. As originally reported by Shapiro et al [1], the syndrome has ACC as a hallmark.…”

Section: Dear Sirmentioning

confidence: 97%

“…In fact, thermoregulation involves a complex system of neural connections between the hypothalamus, limbic system, brainstem, spinal cord, and sympathetic ganglia. The primary pathophysiology underlying this disorder is not yet clear but structural or biochemical abnormalities, e.g., basal forebrain malformations or the dopaminergic denervation of the hypothalamic thermoregulatory center, have been suggested [6][7][8][9]. Although episodic hyperhidrosis and hypothermia without ACC may be symptomatic of an acquired structural or vascular lesion in the corpus callosum or hypothalamus, neither of the two cardinal features alone is pathognomonic [2].…”

Section: Dear Sirmentioning

confidence: 99%

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

et al. 2011

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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.

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Section: Dear Sirsupporting

confidence: 62%

Section: Dear Sirsupporting

confidence: 59%

Section: Dear Sirmentioning

confidence: 97%

Section: Dear Sirmentioning

confidence: 99%

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

et al. 2011

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“…Periodic hypothermia can also occur in patients with partial agenesis of the corpus callosum, with a similar clinical presentation as patients with complete agenesis. [8][9][10] These cases represent the syndrome of periodic hypothermia in the context of a congenital structural lesion. While the clinical syndrome has been well described, successful treatment has been only sporadically reported.…”

Section: Casementioning

confidence: 99%

Diagnosis and management of periodic hypothermia

Blondin

2014

Neur Clin Pract

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SummaryHypothermia, defined as a core temperature below 35°C, can occur in a variety of clinical settings, including environmental exposure, shock, infection, metabolic disorders (such as hypothyroidism, adrenal insufficiency, and Wernicke encephalopathy), malnutrition, and alcohol or drug toxicity. Typically, hypothermia should resolve with treatment of the underlying disorder. However, in rare cases patients experience recurrent episodes of hypothermia in the context of a stereotyped syndrome due to a hypothalamic lesion, which can be either congenital or acquired. The episodes are characterized by progressive confusion and a decreased level of arousal, hypothermia, and eventual resolution with a return to baseline. Additional clinical findings during episodes may include diaphoresis, asterixis, bradycardia, and thrombocytopenia. These recurrent episodes represent periodic hypothermia. I n healthy individuals, several mechanisms exist to prevent hypothermia from occurring. When a reduced body temperature is detected by peripheral temperature receptors, several reflexes are activated: skin vasoconstriction and contraction of erector pili muscles reduce heat radiation, shivering produces heat, and sympathetic excitation and thyroxine production increase the basal metabolic rate. Control of these reflexes occurs in the preoptic nucleus of the anterior hypothalamus and adjacent regions of the septum, which is referred to as the pre-optic area.e1 In this region, thermoafferent signals are mediated by a variety of neurotransmitters, including catecholamines, serotonin, melatonin, peptides, and cytokines. Dysfunction, injury, or destruction of the preoptic area, whether congenital or acquired, can lead to the development of periodic hypothermia. The cognitive impairment and other neurologic symptoms seen during hypothermia may be due to the reduction in cerebral blood flow that occurs once the body temperature falls below 33°C.e2 EEGs performed during episodes

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