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The Costello syndrome: are nasal papillomata essential?
R Yoshida1, Y Fukushima, H Ohashi
1Department of Pediatrics, Tokyo Women's Medical College, Japan.
Insights
Costello syndrome diagnosis may not require nasal papillomata, according to a study of two patients. This finding suggests a broader diagnostic scope for this rare genetic disorder.
Area of Science:
- Medical Genetics
- Pediatric Endocrinology
Background:
- Costello syndrome is a rare genetic disorder characterized by specific physical features and developmental issues.
- Previous diagnostic criteria for Costello syndrome included the presence of nasal papillomata.
Observation:
- Two pediatric patients presented with features consistent with Costello syndrome, including macrocephaly, hypotonia, feeding difficulties, and distinct facial characteristics.
- Neither patient exhibited nasal papillomata, a previously considered diagnostic hallmark.
Findings:
- The absence of nasal papillomata in both patients, who otherwise displayed classic Costello syndrome features, challenges the necessity of this specific symptom for diagnosis.
- Comparison with previously reported cases lacking nasal papillomata supports the revised diagnostic understanding.
Implications:
- This study suggests that nasal papillomata are not essential for diagnosing Costello syndrome, potentially broadening diagnostic criteria.
- Revising diagnostic guidelines can lead to earlier and more accurate identification of individuals with Costello syndrome, facilitating timely management.
Abstract:
Two patients with the Costello syndrome are presented. One was a 7-year-old girl with a history of infantile hypotonia and feeding difficulties. The other was a 3 5/12-year-old boy with a history of neonatal sepsis and respiratory problems. Both had relative macrocephaly at birth, curly hair, large ear lobes, epicanthic folds, a low nasal bridge, thick lips, a short and wide nose, a short neck, a barrel chest, redundant skin, tight Achilles tendons, and pes equinovarus. Nasal papillomata, as described in Costello's two patients, were absent in both patients. Borochowitz et al. (1992) described five patients with what we interpreted as the Costello syndrome but without nasal papillomata. In view of these findings, nasal papillomata are not likely to be essential in the diagnosis of the Costello syndrome.