Article

Intractable neonatal seizures: an unusual presentation of congenital hypothyroidism.

Department of Pediatrics, Cooper University Hospital, Robert Wood Johnson Medical School, Camden, NJ 08103, USA.
Journal of pediatric endocrinology & metabolism: JPEM (impact factor: 0.88). 10/2009; 22(10):961-3. pp.961-3
Source: PubMed

ABSTRACT Congenital hypothyroidism is the most common treatable cause of mental retardation. We report an unusual case of congenital hypothyroidism presenting as intractable seizures in an infant delivered to a mother known to have autoimmune hypothyroidism and who was noncompliant with therapy. To our knowledge, this rare presentation of congenital hypothyroidism has not been reported previously.

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    Article: Epidemiology and Clinical Characteristics of Congenital Hypothyroidism in an Asian Population: A Nationwide Population-Based Study.
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    ABSTRACT: Background: The incidence of congenital hypothyroidism (CH) has been increasing in Western countries, and some populations, including Asians, have a higher incidence. Delayed diagnosis and early treatment influence the outcome of CH. We investigated the incidence and clinical characteristics of CH in Taiwan.Methods: In this retrospective database study we identified cases of CH diagnosed during 1997-2008 in the Taiwan National Health Insurance Research Database (NHIRD). Patients who had a Serious Accidents and Diseases certificate were included in the incidence calculation. We focused on CH patients who were born during 1997-2003 and determined their age at diagnosis and CH-related clinical features. Mental retardation and physiological delays were evaluated with respect to age at diagnosis.Results: A total of 1482 cases were identified. Incidence during the 12-year period was 5.02 per 10 000 births. Among 1115 patients, the most common clinical features of CH were developmental delay (9.6%), constipation (11.6%), and delayed physiological development (9.1%). Congenital anomalies of the heart (7.7%), epilepsy (2.7%), and infantile cerebral palsy (3.2%) were also noted. Survival analysis showed that the risks of mental retardation (hazard ratio [HR], 3.180) and delayed physiological development (HR, 1.908) were greater when age at diagnosis was greater than 1 year.Conclusions: CH incidence was higher in Taiwan than in Western countries. Early diagnosis may decrease the risk of mental and physiological delay.
    Journal of Epidemiology 12/2012; · 1.86 Impact Factor