4 Woodruff Lane
Elizabethtown NY 12932
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Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome may have a hypothalamus-periaqueductal gray localization. - Pediatric neurology
Anatomical localization of the rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome has proved elusive. Most patients had neuroimaging after cardiorespiratory collapse, revealing a range of ischemic lesions.A 15-year-old obese boy with an acute febrile encephalopathy had hypoventilation, autonomic dysfunction, visual hallucinations, hyperekplexia, and disordered body temperature, and saltwater regulation. These features describe the ROHHAD syndrome. Cerebrospinal fluid analysis showed pleocytosis, elevated neopterins, and oligoclonal bands, and serology for systemic and antineuronal antibodies was negative. He improved after receiving intravenous steroids, immunoglobulins, and long-term mycophenolate. Screening for neural crest tumors was negative.Magnetic resonance imaging of the brain early in his illness showed focal inflammation in the periaqueductal gray matter and hypothalamus. This unique localization explains almost all symptoms of this rare autoimmune encephalitis.Copyright Â© 2015 Elsevier Inc. All rights reserved.
Clinical characteristics and mortality risk prediction in critically ill children in Malaysian Borneo. - Singapore medical journal
Mortality risk prediction scores are important for benchmarking quality of care in paediatric intensive care units (PICUs). We aimed to benchmark PICU outcomes at our hospital against the Pediatric Index of Mortality 2 (PIM2) mortality risk prediction score, and evaluate differences in diagnosis on admission and outcomes between Malaysian and immigrant children.We prospectively collected demographic and clinical data on paediatric medical patients admitted to the PICU of Sabah Women's and Children's Hospital in Kota Kinabalu, Sabah, Malaysia. The PIM2 risk score for mortality was tabulated.Of the 131 patients who met the inclusion criteria, data was available for 115 patients. The mean age of the patients was 2.6 Â± 3.8 years, with 79% of the cohort aged less than five years. Patients were mainly of Kadazan (38%) and Bajau (30%) descent, and 26% of patients were non-citizens. Leading diagnoses on admission were respiratory (37%), neurological (18%) and infectious (17%) disorders. Out of the 29 patients who died, 23 (79%) were Malaysians and the main mortality diagnostic categories were respiratory disorder (22%), septicaemia (22%), haemato-oncological disease (17%) and neurological disorder (13%). Calculated standardised mortality ratios (SMRs) were not significantly > 1 for any patient category for variables such as age and admission diagnosis. However, infants less than two years old with comorbidities were significantly worse (SMR 2.61, 95% confidence interval 1.02-6.66).The patient profile at our centre was similar to that reported from other PICUs in Asia. The PIM2 score is a useful mortality risk prediction model for our population.
Association of carbamazepine-induced severe cutaneous drug reactions and HLA-B*1502 allele status, and dose and treatment duration in paediatric neurology patients in Singapore. - Archives of disease in childhood
To determine the association between severe cutaneous drug reactions (SCDR), HLA-B*1502 allelism, carbamazepine dose and treatment duration in a Singapore paediatric population.Case-control study of SCDR with carbamazepine and HLA-B*1502. We recruited 32 cases, 5 with Steven Johnson Syndrome/Toxic Epidermolytic Necrolysis (SJS/TEN) (2 Chinese, 3 Malay), 6 with hypersensitivity syndrome (HSS) (5 Chinese, 1 Indian), 11 with minor drug reactions (9 Chinese, 2 Malay) and 10 controls (7 Chinese, 2 Malay, 1 Indian). HLA-B*1502 allelism was assayed. HLA-B*1502 status and the type of drug reaction were compared using univariate analysis. The time-span from treatment onset to reaction and the dose-time to reaction association in the 3 groups were analysed.HLA-B*1502 was positive in: 5/5 (SJS/TEN), 0/6 (HSS), 1/11 (minor drug reactions) and 1/10 controls. OR for SJS/TEN in HLA-B*1502-positive patients relative to that in HLA-B*1502-negative patients was estimated by exact logistic regression to be 27.20 (95% CI 2.67 to âˆž). Median treatment duration (days) until allergic reactions was 12 (range 11-13), 16 (range 10-37) and 11 (range 0-63) for SJS/TEN, HSS and minor drug reactions, respectively. Median dose at onset of reactions was 6.2â€…mg/kg/day (range 4.6-7.4), 9.8â€…mg/kg/day (range 7.7-12.2) and 6.7â€…mg/kg/day (range 3.6-20.0) for the 3 groups, respectively.HLA-B*1502 positivity increases the odds of carbamazepine-induced SCDR in Singapore children of Chinese and Malay ethnicity. Adverse drug reactions to carbamazepine occurred within 2â€…weeks and at low doses.Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
Childhood transverse myelitis and its mimics. - Neuroimaging clinics of North America
Childhood transverse myelitis is an acute inflammatory disorder of the spinal cord with a risk of permanent disability. A timely and accurate diagnosis is imperative, and the radiologist needs to discern between a variety of extra-axial and spinal cord abnormalities that produce similar symptoms but require vastly differing treatments. This article presents the range of imaging characteristics seen in childhood transverse myelitis and the differentiation from its mimics.Copyright Â© 2013 Elsevier Inc. All rights reserved.
The demographic, clinical, and magnetic resonance imaging (MRI) features of transverse myelitis in children. - Journal of child neurology
The authors collected demographic, clinical, and neuroimaging data prospectively on 38 children with transverse myelitis. One child died during the illness. The female:male ratio was 1.2:1 for children under age 10 years and 2.6:1 over age 10 years. Twenty-eight (74%) reported a prodromal event. Twenty-two patients (58%) had longitudinally extensive transverse myelitis, 9 (24%) had focal lesions, and 5 (13%) had both. Twenty of 33 with brain imaging (61%) had brain lesions; 7 fulfilled McDonald criteria for dissemination in space. Seven of 22 (36%) tested had cerebrospinal fluid oligoclonal banding, 6 of whom had brain lesions. Serum neuromyelitis optica IgG antibodies were absent in all 20 of the children for whom this test was available. At follow-up (mean 3.2 Â± 2.0 years), 16% are wheelchair-dependent, 22% have persisting bladder dysfunction, and 13% have been diagnosed with multiple sclerosis.
Multiple sclerosis in children. - Seminars in neurology
Multiple sclerosis (MS) is being increasingly diagnosed in children and adolescents. Clinical and magnetic resonance imaging (MRI) features of MS in the pediatric population are similar to adult-onset disease, with some important distinctions. Case vignettes, recently published clinical definitions, and an approach to disorders considered in the differential diagnoses are provided in this article. Immunomodulatory therapies approved for use in adults with MS are safe and well-tolerated in children, although monitoring of liver function is of particular importance. Finally, this article presents recent research studies performed in an MS population for whom disease onset occurs in unique temporal proximity to the events involved in MS pathogenesis.
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4 Woodruff Lane Elizabethtown, NY 12932
75 Park Street Gyn Clinic
7513 Court Street
75 Park Street Elizabethtown Community Hospital