Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder.

TANGO2 deficiency disorder (TDD) is a neurodegenerative disease characterized by a broad and variable spectrum of clinical manifestations, even among individuals sharing the same pathogenic variants. Here, we report a severely affected individual with TDD presenting with intractable paroxysmal sympathetic hyperactivity (PSH). While progressive brain atrophy has been observed in TDD, PSH has not been reported. Despite comprehensive workup for an acute trigger, no definite cause was identified, and pharmacological interventions were ineffective to treat PSH. Ultimately care was redirected to comfort measures. This article expands the clinical phenotype of patients with TDD, highlights the possibility of PSH in these patients, and the need for continued research for better treatments of TDD.

Magnetic resonance angiography evidence of vasospasm in children with suspected acute hemiplegic migraine.

Hemiplegic migraine is a rare subtype of migraine that is differentiated by motor weakness in the aura phase. The purpose of this case series was to examine the magnetic resonance angiogram findings of patients suffering from suspected acute hemiplegic migraine. This was a retrospective institutional board review protocol study of 8 patients. All patients received full brain magnetic resonance imaging under a 1.5-T magnet. The scans were subsequently evaluated by a neuroradiologist and 2 neurologists who were blinded to the study. The magnetic resonance angiogram findings of this study showed the presence of vasospasm within the intracranial vasculature during suspected acute hemiplegic migraine. This case series suggests that routine use of magnetic resonance angiography might be beneficial in both managing patients with acute hemiplegic migraine and helping to further understand the pathophysiology of this complicated disease process.

A child with transient neurologic deficits and headache associated with cerebrospinal fluid pleocytosis.

We report a case of a 10-year-old girl who had several episodes of severe headache, altered consciousness, and temporary neurologic signs and symptoms within a 2-month period. Cerebrospinal fluid examination showed lymphocytic pleocytosis and increased protein. Extensive microbiologic investigation and neuroimaging studies were negative. Cerebrospinal fluid findings were normalized within a 3-month period, and the patient has not had further episodes through 15 months of follow-up. This combination of symptoms represents a benign, monophasic illness without further progression. The etiology, however, remains unclear.