A late presentation of myopathy presenting as sleep hypoventilation in the setting of acute demyelinating encephalomyelitis.

Unlabelled: Central hypoventilation is a rare cause of respiratory failure that has been associated with multiple underlying disorders, including congenital central hypoventilation syndrome, obesity hypoventilation syndrome, and several neuromuscular conditions. We report the case of an adolescent who presented with respiratory failure in the setting of acute demyelinating encephalomyelitis whose clinical history was consistent with a congenital myopathy and whom we found to have a Tropomyosin 3 () genetic variant on further genetic testing. This case expands the clinical spectrum of causes for late-onset central hypoventilation in the setting of a neuromuscular disorder.

Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years.

Background And Objectives: Spinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel in July 2018 largely on the basis of the availability and efficacy of newly approved disease-modifying therapies. New York State (NYS) started universal newborn screening for SMA in October 2018. The authors report the findings from the first 3 years of screening.

Neuropathic cachexia associated with type 1 diabetes in an adolescent girl.

Background: Diabetic neuropathic cachexia is a rare and little understood variant of diabetic neuropathy. It predominantly affects men with type 2 diabetes mellitus in their sixth to seventh decades of life and is characterized by the subacute onset of a painful sensory neuropathy, rapid weight loss, and psychiatric comorbidity.

Methods: We present the only female pediatric case described to date, and one of only a handful of cases reported to affect type 1 diabetics.

CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2.

Mutations in the CACNA1A gene on chromosome 19 have been associated with a variety of clinical disorders, including familial hemiplegic migraine type 1 and episodic ataxia type 2 (EA2). We report a patient with 2 distinct attack types, one representing EA2 and the other, basilar-type migraine. Genetic testing revealed a novel nonsense mutation in the CACNA1A gene at codon position 583.

A neonate with asymmetric arm movements.

Abnormal arm posture or movements in a neonate may cause significant concern in a pediatric emergency department. This can be secondary to osteomyelitis, which may rarely present with asymmetric arm movements in the neonatal period. The diagnosis of osteomyelitis is difficult to establish in a neonate because systemic signs may not be present at this age.

An asthmatic adolescent with a rash and eosinophilia.

Children frequently visit emergency departments with asthma exacerbations. Many of these asthmatic children may have fever and/or pneumonia, but when associated with eosinophilia or evidence of vasculitis, other diagnoses should be considered. Churg-Strauss syndrome is a rare form of systemic vasculitis, which usually occurs in patients with asthma in association with eosinophilia.

A febrile child with seizure and hemiparesis.

Febrile seizures are the most common neurological disorders in children and are among the more common symptoms that lead to an emergency department visit. Although most febrile seizures are simple and benign, these seizures can infrequently create a diagnostic dilemma. The diagnosis of cerebral venous thrombosis is challenging to emergency physicians because it can mimic the presentation of many other disorders, including ischemic and hemorrhagic stroke, tumor, and abscess.