Developmental Delay in a Teen With Neurofibromatosis Type I
A 16-year-old boy presented for evaluation of his worsening behavior at school. He was very hyperactive and had difficulty in paying attention. He had always required help with reading and language. Maternal pregnancy and birth history were unremarkable.
A 16-year-old boy presented for evaluation of his worsening behavior at school. He was very hyperactive and had difficulty in paying attention. He had always required help with reading and language. Maternal pregnancy and birth history were unremarkable.
During the physical examination, the patient was noted to have 8 hyperpigmented macules ranging from 2 to 8 cm with smooth margins, 7 or 8 flesh-colored, nontender papules, and 3 nodules on the trunk (A). His mother had numerous similar lesions on her trunk (B). Neither son nor mother had any changes in vision, heart murmur, or bony deformity. A diagnosis of neurofibromatosis had been suspected by a previous physician but had not been confirmed.
Neurofibromatosis type I, first described by von Recklinghausen in 1882, is one of the most common autosomal dominant neurocutaneous conditions. The estimated incidence is 1 in 2500 to 3000 persons, independent of ethnicity, race, and gender.1
Formal diagnostic criteria were established by the Health Consensus Development Conference in 1987. Currently, the diagnosis is made when 2 or more of the following clinical features are present2:
Neurocognitive deficits, including gross and fine motor delays, visuospatial and language disorders, attention-deficit/hyperactivity disorder, autism spectrum disorder, and behavior and psychosocial issues, are very common in patients with neurofibromatosis type I. All children with neurofibromatosis type I should have a developmental and neuropsychological assessment before school entry for educational planning.
Associated cardiovascular issues include congenital heart disease, vasculopathy (renal artery stenosis, coronary heart disease, cerebrovascular disease, arteriovenous malformations), and hypertension. Annual blood pressure screening and cardiovascular examination are recommended.
Scoliosis is present in 10% to 25% of patients and, depending on severity, may be treated by braces, corrective surgery, or early spinal fusion.3 Short stature is seen in about 15% of patients.4
Consultation with cardiac, orthopedic, and ophthalmological specialists may be indicated to rule out or manage conditions associated with neurofibromatosis.
This patient was enrolled in a behavior modification program. He was also placed in the individualized education program at school for children with learning disabilities. At last checkup, he was making good progress.
References:
REFERENCES:
1.
Williams VC, Lucas J, Babcock MA, et al. Neurofibromatosis type 1 revisited.
Pediatrics
. 2009;123:124-133.
2.
Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.
J Med Genet
. 2007;44:81-88.
3.
Tsirikos AI, Saifuddin A, Noordeen MH. Spinal deformity in neurofibromatosis type-1: diagnosis and treatment.
Eur Spine J
. 2005;14:427-439.
4.
Alwan S, Armstrong L, Joe H, et al. Associations of osseous abnormalities in neurofibromatosis 1.
Am J Med Genet A
. 2007;143A:1326-1333.
Lawrence Eichenfield, MD, talks tapinarof cream, 1%, nemolizumab FDA approvals for atopic dermatitis
December 20th 2024"Tapinarof comes in with that mixture of the short-term studies and longer-term studies intermittently, giving us a nice, effective alternative non-steroid for eczema across the ages."
Recognize & Refer: Hemangiomas in pediatrics
July 17th 2019Contemporary Pediatrics sits down exclusively with Sheila Fallon Friedlander, MD, a professor dermatology and pediatrics, to discuss the one key condition for which she believes community pediatricians should be especially aware-hemangiomas.
