一名皮层视觉障碍婴儿的 CAD 相关障碍 (EIEE-50)。

IF 2 4区医学 Q3 CLINICAL NEUROLOGY Journal of Child Neurology Pub Date : 2024-05-01 Epub Date: 2024-05-22 DOI:10.1177/08830738241255247

Sarah Thurman, Callie Fischer, Julie Guerin, Ralitza Gavrilova, Michael Brodsky

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引用次数: 0

摘要

目的：记录CAD相关紊乱（EIEE-50）与皮层视力损伤的关联：一名 8 个月大的白种男孩，全基因组测序证实其基因 CAD 存在 2 个变异，表现为严重抽搐、小头畸形、反射亢进、肌张力低下、贫血和严重的皮质视力障碍。脑部磁共振成像（MRI）显示，右侧心盏裂沿线的皮质灰质增厚，并显示皮质发育畸形。经验性单磷酸尿苷补充剂明显改善了癫痫活动、肌张力低下和发育，并缓解了贫血：CAD相关疾病是可以治疗的，它可能会影响视觉皮层的发育，导致严重的继发性皮层视力损伤，这是一种新描述的临床表现。

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CAD-Related Disorder (EIEE-50) in an Infant With Cortical Visual Impairment.

Purpose: To document the association of CAD-related disorder (EIEE-50) with cortical visual impairment.

Observations: An 8-month-old Caucasian boy with whole genome sequencing confirming 2 variants in the gene CAD, who presented with severe seizures, microcephaly, hyperreflexia, hypotonia, anemia, and severe cortical visual impairment. Magnetic resonance imaging (MRI) of the brain noted thickened cortical gray matter along the right calcarine fissure as well as changes suggesting malformation of cortical development. Empiric uridine monophosphate supplementation has significantly improved seizure activity, hypotonia, and development and has led to resolution of anemia.

Conclusions and importance: CAD-related disorder is treatable and may affect visual cortical development causing severe secondary cortical visual impairment, a newly described clinical manifestation.

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来源期刊

Journal of Child Neurology 医学-临床神经学

CiteScore

4.20

自引率

5.30%

发文量

111

审稿时长

3-6 weeks

期刊介绍： The Journal of Child Neurology (JCN) embraces peer-reviewed clinical and investigative studies from a wide-variety of neuroscience disciplines. Focusing on the needs of neurologic patients from birth to age 18 years, JCN covers topics ranging from assessment of new and changing therapies and procedures; diagnosis, evaluation, and management of neurologic, neuropsychiatric, and neurodevelopmental disorders; and pathophysiology of central nervous system diseases.