Shapiro syndrome

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Shapiro syndrome is a very rare condition characterized by the triad of episodic hypothermia, hyperhidrosis, and agenesis of the corpus callosum . A similar syndrome, characterized by episodic hyperthermia and agenesis of the corpus callosum, has been termed reverse Shapiro syndrome .

Epidemiology

Shapiro syndrome is thought to be exceedingly rare, with less than 100 cases having been reported in the literature . The syndrome can manifest at any age .

Reverse Shapiro syndrome is considered even rarer, with less than five cases having been reported .

Clinical presentation

Patients with Shapiro syndrome present with episodic or periodic hypothermia and whole-body hyperhidrosis . Episodes typically occur without warning and last hours in length . Additionally, patients may also have chills or rigors, often following an episode of hyperhidrosis, in order to increase body temperature . Typically there are no other neuropsychiatric symptoms or other evidence of hypothalamic dysfunction (e.g. hypogonadism, diabetes insipidus, precocious puberty) .

In reverse Shapiro syndrome, the clinical presentation is one of episodic or periodic hyperthermia . Similar to Shapiro syndrome, these patients have no other neuropsychiatric symptoms or other evidence of hypothalamic dysfunction .

Pathology

While thermoregulation is complex, the role of the hypothalamus is considered central to this process . The anterior hypothalamus plays a pivotal role in heat dissipation while the posterior hypothalamus plays a role in heat conservation . Thus, lesions of different parts of the hypothalamus may produce hyperthermia or hypothermia respectively .

However, in Shapiro syndrome and reverse Shapiro syndrome, there is typically no hypothalamic lesion, and thus, hypothalamic dysfunction is thought to be due to corpus callosum agenesis . How this dysfunction exactly occurs is a subject of conjecture and there are multiple theories, including neuronal network disconnection between the hypothalamus and other part of the brain due to the absence of the corpus callosum, an underlying neurodegenerative process, or a possible epileptic focus .

Radiographic features

Patients with Shapiro syndrome and reverse Shapiro syndrome will have typical features of agenesis of the corpus callosum, which is best appreciated on MRI brain .

Treatment and prognosis

Management is guided by case report-level evidence, with effective agents being clonidine, clomipramine, and cyproheptadine . These agents have been shown to reduce frequency of episodes, or in some cases, result in cessation of episodes .

History and etymology

The first two cases describing patients with this syndrome were described by William R Shapiro and his colleagues in their 1969 seminal publication .

Differential diagnosis

Clinical differential diagnoses: