학술논문

Microcephaly and intracranial calcifications: Not always TORCH infection!
Document Type
Letter
Source
Journal of Paediatrics & Child Health. Aug2019, Vol. 55 Issue 8, p1000-1001. 2p. 1 Color Photograph.
Subject
*CALCIFICATION
*MICROCEPHALY
*INFECTION
*GENETIC disorders
*LEFT ventricular hypertrophy
*AUTOIMMUNE disease diagnosis
*DIAGNOSIS of brain diseases
*GENETIC disorder diagnosis
*DIAGNOSIS of neurological disorders
*BRAIN diseases
*AUTOIMMUNE diseases
*DIFFERENTIAL diagnosis
*NERVOUS system abnormalities
*NEUROLOGICAL disorders
*CRANIOFACIAL abnormalities
*CALCINOSIS
Language
ISSN
1034-4810
Abstract
Congenital infection was considered: TORCH serology, metabolic screening, full septic screening, lumbar puncture and fundoscopy were all normal. It is especially important to recognise genetic disorders that mimic congenital infection because of the risk of recurrence in subsequent pregnancies. The neonatal form of Aicardi-Goutières syndrome masquerading as congenital infection. [Extracted from the article]