Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes.

The purpose of this study is to provide the results of the newborn screening (NBS) program for Spinal Muscular Atrophy (SMA) in the state of Georgia to determine disease incidence, time to diagnosis and treatment, and early outcomes. NBS for SMA was performed using real time PCR assays from February 2019 through February 2020 in a pilot phase of screening. This method continued as part of our official state panel, and here we describe the pilot period as well as the first year of standard screening through February 2021.

Indium 111 diethylenetriamine pentaacetic acid scintigraphy in the identification and management of intrathecal pump malfunction.

Background: Intrathecal drug-delivery systems have become widely used tools in the management of refractory chronic pain and spasticity. Because increasing numbers of patients are using these systems, rehabilitation specialists frequently are the initial care providers who identify clinical signs and symptoms indicating possible complications relating to the implanted system. Identification of a pump malfunction often presents a diagnostic challenge.

Lambert-Eaton Myasthenic syndrome in a child with an autoimmune phenotype.

We report on a child with a family history of autoimmune defects, who presented at the age of 3(1/2) years with alopecia and Graves disease. He subsequently developed vitiligo and psoriasis. At 9(1/2) years, he developed an autoimmune form of Lambert-Eaton Myasthenic syndrome (LEMS) with a significant elevation of glutamic acid decarboxylase (GAD) autoantibodies.

Unusual encephalopathy after acute chest syndrome in sickle cell disease: acute necrotizing encephalitis.

Stroke is the most common neurologic complication of sickle cell disease. Acute chest syndrome (ACS) is a known risk factor for stroke in this population. Two patients (a 12-year-old boy and a 6-year-old girl) developed acute change of mental status and focal neurologic signs during episodes of ACS.

Fatal infantile X-linked neuropathy.

We report a pedigree with severe X-linked neuropathy that occurs in male infants and results in death, typically by 2 years of age. The proband of our report was weak with preserved mentation. He underwent extensive evaluation, which revealed abnormal nerve conduction studies, neurogenic changes on muscle biopsy, a decreased number of large myelinated fibers and rare onion bulb formations on nerve biopsy, negative gene testing for spinal muscular atrophy, CMT1a, and CMTX1 and a normal brain magnetic resonance image.