A case of Becker muscular dystrophy with early manifestation of cardiomyopathy / 소아과

An 18-year-old boy was admitted with chest discomfort, nausea, and dyspnea at rest. At the age of 3 years, he underwent muscle biopsy and dystrophin gene analysis owing to an enlarged calf muscle and elevated serum kinase level (6,378 U/L) without overt weakness; based on the results, Becker muscular dystrophy (BMD) was diagnosed. The dystrophin gene showed deletion of exons 45 to 49. He remained ambulant and could step upstairs without significant difficulties. A chest roentgenogram showed cardiomegaly (cardiothoracic ratio, 54%), and his electrocardiogram (ECG) showed abnormal ST-T wave, biatrial enlargement, and left ventricular hypertrophy. The 2-dimensional and M-mode ECGs showed a severely dilated left ventricular cavity with diffuse hypokinesis. The systolic indices were reduced, including fractional shortening (9%) and ejection fraction (19%). Despite receiving intensive medical treatment, he died from congestive heart failure 5 months after the initial cardiac symptoms. We report a case of BMD with early-onset dilated cardiomyopathy associated with deletion of exons 45 to 49. Early cardiomyopathy can occur in BMD patients with certain genotypes; therefore, careful follow-up is required even in patients with mild phenotypes of BMD.

Neurologic Manifestations and Prognosis in Hemophagocytic Lymphohistiocytosis / 대한소아신경학회지

PURPOSE: Hemophagocytic lymphohistiocytosis (HLH) presenting with neurologic manifestationhas a poor prognosis due to delayed diagnosis and treatment. We investigated the time between onset of symptoms and diagnosis of HLH and clinical findings and outcome in patients with HLH presenting with neurologic manifestation. METHODS: We retrospectively assessed 24 patients with HLH in Seoul National University Children's Hospital from January 2002 to December 2010. Sex, age on diagnosis, symptoms, laboratory findings, time between onset of symptoms and diagnosis of HLH, cerebral spinal fluid (CSF) findings and brain magnetic resonance imaging (MRI) findings were reviewed. RESULTS: At diagnosis, 7 children (29.2%) had neurologic symptoms, including seizure (n=6) and right side weakness (n=1). Time to diagnosis from onset of symptoms ranged between 7 and 385 days in patients with neurologic symptoms and between 2 and 87 days in patients without neurologic symptoms. Five patients had brain MRI abnormalities; radiologic findings were multiple high signal intensity lesions on T2-weighted image (n=3), focal high signal intensity lesion followed by severe cerebral edema (n=1), and diffuse cerebral atrophy (n=1).Of these 7 patients, 4 died, 1 underwent stem cell transplantation and was followed, 1 was followed after completion of therapy without neurologic sequelae, and 1 is still under treatment and has mild neurologic sequelae. CONCLUSION: HLH presenting with neurologic manifestation is difficult to distinguish from other diseases because of nonspecific symptoms and imaging findings. However, HLH is treatable with chemotherapy and stem cell transplantation, so it is important to consider HLH in a patient with neurologic disease that is unresponsive to treatment and accompanies systemic symptoms.

Neurologic Complications of Bacterial Meningitis in Children / 대한소아신경학회지

PURPOSE: This study was performed to investigate clinical findings of acute neurologic complications and risk factors for chronic neurologic complications of bacterial meningitis in children. METHODS: Pediatric patients with community acquired bacterial meningitis diagnosed at Seoul National University Children's Hospital and Bundang Seoul National University Hospital were included. We investigated the relative frequency of neurologic complications and distribution of causative organisms. Chronic neurologic complication was defined as persistent neurologic deficit including recurrent seizures 6 months from the diagnosis. Multiple logistic regression analysis was used to identify risk factors for epilepsy and motor deficits, which were the most frequently reported chronic neurologic complications. RESULTS: A total of 90 cases were included in the study. Thirteen cases with less than 6 months follow-up duration were excluded from the analysis of risk factors for chronic neurologic complications. The mean age at diagnosis was 15.6 months. Streptococcus agalactiae was the most common pathogen accounting for 27 cases, followed by Streptococcus pneumoniae (19 cases), Hemophilus influenzae type b (13 cases), and Neisseria meningitidis (12 cases). Acute neurologic complications were found in 28 cases (31%): cerebral infarction in 16 cases, subdural effusion in 15 cases, and hydrocephalus in 9 cases. Chronic neurologic complications were found in 41 (53%) cases: epilepsy in 28 cases, motor deficit in 16 cases, hearing loss in 6 cases, and cognitive impairment in 4 cases. Cerebral infarction and S. pneumoniae infection were identified as risk factors for epilepsy. Cerebral infarction was a unique risk factor for motor deficit. CONCLUSION: Cerebral infarction is the important risk factor for the development of chronic neurologic complications including epilepsy and motor deficit in pediatric patients with bacterial meningitis.