Clinical spectrum and management of holoprosencephaly

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 pa...

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Bibliographic Details
Published inNo to hattatsu Vol. 32; no. 4; p. 301
Main Authors Kawame, H, Kurosawa, K, Akatsuka, A, Ochiai, Y
Format Journal Article
LanguageJapanese
Published Japan 01.07.2000
Subjects
Child
Child, Preschool
Developmental Disabilities - etiology
Feeding and Eating Disorders - etiology
Female
Follow-Up Studies
Holoprosencephaly - complications
Holoprosencephaly - physiopathology
Humans
Hypernatremia - etiology
Hyponatremia - etiology
Intellectual Disability - etiology
Male
Nutrition Disorders - etiology
Respiratory Tract Infections - etiology
Seizures - etiology
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Summary: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.
ISSN:0029-0831
DOI:10.11251/ojjscn1969.32.301