Glutaric Aciduria Type 1 and Nonaccidental Head Injury
| Autor: | L. M. Hartley, BCh, MRCP, O. S. Khwaja, C. M. Verity, BCh, FRCPCH |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Male
Child abuse Oxidoreductases Acting on CH-CH Group Donors medicine.medical_specialty Pediatrics Poison control Glutaric aciduria type 1 Diagnosis Differential Glutarates Hematoma Seizures medicine Craniocerebral Trauma Humans Child Abuse Glutaryl-CoA Dehydrogenase business.industry Head injury Macrocephaly Brain Diseases Metabolic Inborn Infant Subdural hemorrhage medicine.disease Surgery Hematoma Subdural Pediatrics Perinatology and Child Health Etiology Drainage medicine.symptom Oxidoreductases Tomography X-Ray Computed business |
| Zdroj: | Pediatrics. 107:174-176 |
| ISSN: | 1098-4275 0031-4005 |
| DOI: | 10.1542/peds.107.1.174 |
| Popis: | Subdural hemorrhage has been a recognized manifestation of nonaccidental injury in childhood (NAI) since 1860.1 The presence of subdural collections, often with coexisting retinal hemorrhages, fractures, and multiple traumatic injury, greatly raise the clinical index of suspicion for child abuse.2–5 The finding of subdural blood in an infant presents a difficult and important diagnostic challenge for pediatricians given the legal and social import of child abuse. Glutaric aciduria type 1 (GA1) is a relatively rare inborn error of metabolism that presents in infancy with a range of neurological features. It is increasingly recognized that GA1 is associated with acute subdural hemorrhage and chronic subdural collections.6–8 We present a case of an infant with bilateral subdural hematoma in whom a diagnosis of NAI was initially made. Subsequent metabolic investigation of the child led to a diagnosis of GA1 with important therapeutic, social, and legal consequences. An 8-week-old white male infant was referred to this hospital by his general practitioner after a head injury. The history from the mother was that the infant was upstairs being carried by his 7-year-old brother who fell, dropping the infant against a wall. She was downstairs and was alerted by the infant's cry. The infant vomited and was noted to be drowsy. He was then taken immediately to the general practitioner's office. The infant was born by spontaneous vaginal delivery at 38 weeks' gestation after a normal pregnancy. He was noted to be asymmetrically growth retarded with weight below the 10th percentile and head circumference on the 50th percentile. The infant was bottle-fed from birth, received the first diphtheria, tetanus, and pertussis-polio- Haemophilus influenzae type b vaccination, and was well until the day of presentation. The family consisted of this infant and 2 older half-siblings, aged 4 and 7, who were well. All … |
| Databáze: | OpenAIRE |
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