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[Clinical spectrum and management of holoprosencephaly]
H Kawame1, K Kurosawa, A Akatsuka
1Department of Pediatrics, Tokyo Metropolitan Kita Medical & Rehabilitation Center for Handicapped.
Insights
Holoprosencephaly (HPE) presents a wide spectrum of developmental delays and neurological issues. Close monitoring for complications like feeding difficulties, seizures, and hormonal imbalances is crucial for affected children.
Area of Science:
- Neuroscience
- Developmental Biology
- Pediatrics
Context:
- Holoprosencephaly (HPE) is a congenital brain malformation with significant developmental impact.
- Understanding the phenotypic variability and management challenges is essential for pediatric care.
Purpose:
- To delineate the phenotypic spectrum of holoprosencephaly in children.
- To evaluate the management and outcomes of intervention programs for HPE.
Summary:
- This study reviewed eight children (3-10 years) with alobar, semilobar, and lobar HPE.
- All patients exhibited postnatal growth retardation, severe developmental delay, and neurological deficits including spasticity and seizures.
- Common complications included feeding difficulties, gastroesophageal reflux, recurrent infections, and hormonal imbalances.
Impact:
- Highlights the need for comprehensive, multidisciplinary management of HPE patients.
- Informs clinical practice regarding potential complications and long-term follow-up strategies.
- Contributes to the understanding of HPE's complex phenotype and associated morbidities.
Abstract:
To study the phenotypic spectrum and management of holoprosencephaly (HPE), we reviewed the findings of eight children with HPE from 3 to 10 years of age, who underwent intervention programs and rehabilitation at our center. One patient had alobar HPE, three semilobar HPE, and four lobar HPE. All patients had postnatal growth retardation, and seven showed a decreased BMI (< 25% tile). All patients had severe developmental delay and mental retardation (DQ < 40), showing no obvious correlation between their severity and the type of HPE. Neurologically seven patients had spasticity (3 spastic quadriplegia, 2 spastic diplegia, 2 mixed-type), except one patient with a 7q deletion [46,XY,del(7) (q35)] who had generalized hypotonia. Seven had variable types of seizures. All patients had feeding difficulties and were assessed by speech-language therapists. Four patients required tube feeding, four had gastroesophageal reflux disease. Recurrent respiratory tract infection was common. Three patients had abnormal serum sodium concentration (1 diabetes insipidus, 1 idiopathic hypernatremia, 1 hyponatremia). No family history of HPE was elicited. In conclusion, patients with HPE should be followed up closely for complications such as feeding difficulty, malnutrition, seizures, spasticity, infection, and osmoreceptor-hypothalamus-hypophyseal axis abnormalities.