Which is a rare genetic malformation syndrome characterised by the partial or complete absence of the corpus… - DSSSB 14 August 2024

DSSSB 14 August 2024

Pathology & Genetics

Easy

Appeared in: DSSSB 14 August 2024

Explanation

Aicardi syndrome is a rare, X-linked dominant genetic disorder.
It is classically defined by a triad of clinical findings: agenesis of the corpus callosum (ACC), infantile spasms, and chorioretinal lacunae.
The key feature mentioned in the question, the partial or complete absence of the corpus callosum, is a hallmark of this syndrome.
The condition almost exclusively affects females because the genetic mutation on the X chromosome is typically lethal in males with an XY karyotype.

Option A: Allport syndrome is a genetic disorder of collagen IV, which primarily affects the kidneys (glomerulonephritis), ears (sensorineural hearing loss), and eyes (lenticonus). It does not involve major brain malformations like agenesis of the corpus callosum.
Option C: Leopard syndrome is a multiple lentigines syndrome. Its name is a mnemonic for its features: Lentigines, Electrocardiographic abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, and Deafness. It is not associated with agenesis of the corpus callosum.
Option D: Felty syndrome is not a genetic malformation syndrome but rather a severe complication of long-standing, seropositive rheumatoid arthritis. It is characterized by the triad of rheumatoid arthritis, an enlarged spleen (splenomegaly), and a low white blood cell count (neutropenia).

Clinical Relevance

Nursing practice connection: Knowing Identification of genetic syndromes from key clinical findings helps nurses interpret findings accurately and avoid errors in routine assessment, medication administration, and patient teaching.
Nurses caring for a child with Aicardi syndrome must be highly skilled in neurological assessment, seizure management (especially for infantile spasms), and providing support for developmental delays.
Family education and support are critical, as Aicardi syndrome is a lifelong condition with significant care needs. Nurses play a key role in connecting families with resources and coordinating multidisciplinary care (neurology, ophthalmology, physical therapy).
What if? If a male infant presented with infantile spasms and agenesis of the corpus callosum, Aicardi syndrome would be extremely unlikely due to its lethality in males. The nurse should anticipate the care team investigating other causes of ACC, such as different genetic syndromes (e.g., Andermann syndrome) or chromosomal abnormalities, and prepare for a broader diagnostic workup.

How to Approach the Question

First, identify the core clinical finding presented in the question stem, which is the 'partial or complete absence of the corpus callosum'.
Recognize this as a major, specific congenital brain malformation.
Systematically evaluate each option provided, recalling the primary characteristics of each syndrome.
Eliminate options that are clearly unrelated to congenital brain malformations. For example, Felty syndrome is an autoimmune complication, and Allport syndrome primarily affects the kidneys and hearing.
Compare the remaining options. Leopard syndrome is known for skin and heart findings, not major brain anomalies.
Conclude that Aicardi syndrome is the correct answer, as its classic definition includes agenesis of the corpus callosum.

Concept Tested & Keywords

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E6 Nelson Textbook of Pediatrics(2024) — Volume 2 p. 1380-1382