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Diagnostic outcome in children with multiple café au lait spots
1Division of Genetics, Children's Hospital, Boston, MA 02115.
Insights
Many children with multiple café au lait spots develop neurofibromatosis type 1 (NF1), often diagnosed by age five. Regular follow-up, including physical and eye exams, aids in establishing a definitive diagnosis.
Area of Science:
- Pediatrics
- Genetics
- Dermatology
Background:
- Multiple café au lait spots are a common finding in children.
- Early identification of genetic conditions is crucial for timely intervention.
Purpose of the Study:
- To determine the diagnostic yield of regular follow-up for children presenting with multiple café au lait spots.
- To identify the most common diagnoses and diagnostic features in this cohort.
Main Methods:
- Prospective annual examination of 41 children with ≥6 café au lait spots.
- Clinical assessment including physical and ophthalmological examinations.
- Diagnosis based on established criteria for neurofibromatosis type 1 and other genetic syndromes.
Main Results:
- Twenty-four of 41 children developed signs of neurofibromatosis type 1 (NF1).
- Skin-fold freckling was the most frequent diagnostic feature (18/24), followed by Lisch nodules (5/24) and neurofibromas (3/24).
- Diagnoses were typically established within 3 years, often before age 5.
Conclusions:
- Regular clinical and ophthalmological follow-up is effective in diagnosing NF1 in children with multiple café au lait spots.
- Other diagnoses, including segmental NF1, Bannayan-Riley-Rulvalcaba syndrome, and multiple lentigines syndrome, should be considered.
- A subset of children may only present with café au lait spots without a definitive diagnosis after follow-up.
Abstract:
Forty-one children, ranging in age from 1 month to 14 years, had six or more café au lait spots at their initial visit and were examined annually. Signs of neurofibromatosis type 1 eventually developed in 24. The most common feature to appear to confirm the diagnosis was skin-fold freckling, which occurred in 18 subjects. Diagnosis was based on the appearance of Lisch nodules in 5, and on neurofibromas in 3. In most instances, diagnosis was established within 3 years of initial evaluation, usually before 5 years of age. Six children had a segmental distribution of café au lait spots, suggesting segmental neurofibromatosis. In 3, diagnoses other than neurofibromatosis type 1 were established (Bannayan-Riley-Rulvalcaba syndrome, multiple lentigines syndrome, and fibrous dysplasia). In 8 subjects only multiple café au lait spots are present, and no definite diagnosis has been established. It is concluded that with regular follow-up, including physical and ophthalmological examinations, a definite diagnosis, most commonly neurofibromatosis type 1, can be established for most children having multiple café au lait spots.