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. Medical records of infants with a positive NBS were reviewed for time to confirmation and neurologic evaluation, SMN2 copy number, clinical information, and treatment. Descriptive statistics were applied. Of the 301,418 samples screened, there were 15 true positive (eight males) and 24 false positive cases. One patient was missed due to human error early in the pilot phase and presented after symptom onset. The incidence of SMA in Georgia is approximately 1 in 18,840 births per year. After the pilot phase, the false positive rate was found to be so low that all patients who test positive were immediately referred to neurology for further care. Four patients died prior to intervention. Ten patients received intervention. Gene therapy was the preferred treatment. One patient was lost to follow-up; another was clinically followed. In conclusion, trends for treated patients show improved or stable motor function. Long-term follow-up will help determine the durability of treatment.

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. Distinguishing among progression of disease, new organic problems, and/or drug-device complications is critical. The use of nuclear medicine indium 111 diethylenetriamine pentaacetic acid (DTPA) studies represents a highly effective, straightforward, minimally invasive way to assess implant function and drug distribution. OBJECTIVE: To identify patients with suspected intrathecal pump malfunction and to determine whether the use of indium 111 DTPA is effective in identifying the source of failure. DESIGN: A retrospective review was performed from 2011 to 2012. SETTING: The study was performed at Georgia Health Sciences University. PATIENTS: The 23 selected patients had implanted devices for either spasticity or pain and were experiencing symptoms of a possible pump malfunction despite normal radiographic imaging. Twenty-four scintigraphic studies were performed, with malfunction documented in 19 patients. METHODS: A standard refill technique was used to inject 0.3 mL of indium 111 DTPA into the pump reservoir. Radionuclide images were reviewed at varying time points up to 48 hours after injection. The extent of radionuclide progression from the pump reservoir to the intrathecal space was evaluated. In cases in which a problem with the implant was identified, correlation with operative findings is described. RESULTS: Normal results of studies ultimately correlated with other clinical issues and confirmed an alternative etiology for the clinical changes noted. In studies with abnormal results, several patterns of failure were identified: restriction of the radionuclide to the pump reservoir, extravasations of tracer into the pump subcutaneous pocket, failure of the tracer to migrate from the subcutaneous catheter to the intrathecal space, and pooling of the tracer in the subcutaneous tissues. In all cases, surgical findings confirmed the suspected mechanism of malfunction as determined by the study. CONCLUSIONS: Indium 111 DTPA scintigraphy is a safe, straightforward way to identify and characterize clinical changes associated with intrathecal drug-delivery systems and to guide appropriate and clinical surgical management.

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. Shortly thereafter he developed chronic urticaria. HLA associations were present for Graves disease, vitiligo, psoriasis, and IgA deficiency. There was also evidence of autoimmunity involving the pancreatic islet cells and gastric parietal cells.

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. The clinical and radiologic findings were compatible with acute necrotizing encephalitis, a variant of acute demyelinating encephalomyelitis. Patients with acute neurologic deterioration in conjunction with ACS should be evaluated thoroughly for other causes of central nervous system disease including infectious/parainfectious processes as well as stroke.