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Children with large heads: a practical approach to diagnosis in 557 children, with special reference to 109 children
Insights
Megalencephaly, a condition causing large heads in children, often has a familial link and rapid early head growth. Most affected children are neurologically normal, with few showing developmental delays.
Area of Science:
- Pediatric Neurology
- Clinical Genetics
- Developmental Pediatrics
Background:
- Large head presentation in children poses diagnostic challenges.
- Megalencephaly is a significant diagnosis within this group.
- Differentiating megalencephaly from other causes of large heads is clinically important.
Purpose of the Study:
- To outline a clinical approach for differentiating megalencephaly from other causes of large heads in children.
- To characterize the key features of megalencephaly in a pediatric cohort.
Main Methods:
- Retrospective analysis of 557 children with large head presentations.
- Identification of 109 children with megalencephaly as the primary diagnosis.
- Clinical assessment and follow-up for diagnostic differentiation.
Main Results:
- Megalencephaly occurred in 109 of 557 children (19.6%).
- Familial incidence of large heads was noted in at least 50% of cases.
- A 4:1 male to female preponderance was observed.
- Accelerated head growth was present in 80% within the first four months and 12% in late infancy.
- The majority of children with megalencephaly were developmentally normal.
- Only seven children exhibited developmental delay, often with associated neurological or somatic abnormalities.
Conclusions:
- Megalencephaly is a common cause of large heads in children, often with a benign familial or growth-related etiology.
- A systematic clinical approach aids in distinguishing megalencephaly.
- Most children diagnosed with megalencephaly exhibit normal development, challenging initial concerns about significant neurological impairment.
Abstract:
Among 557 children who presented a diagnostic problem of a large head, 109 had megalencephaly as the primary diagnosis. A clinical approach to the differentiation of this numerically important group from the various other causes of large head is outlined. The group is characterised by a familial incidence of large head in at least 50 per cent of cases; a male to female preponderance of four to one; an above-normal rate of head growth in 80 per cent of the children in the first four months after birth, and in a further 12 per cent in late infancy. The vast majority of these children were normal. Only seven children were retarded, and they also had a variety of neurological and other somatic abnormalities.