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Recklinghausen (von), disease
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[MIM 162 200, 162 210, 613 675]
(Neurofibromatosis type I)
Prevalence: 1/2,500 live births.
Hereditary and peripheral phakomatosis with multisystemic involvement with variable clinical expression and severity. Autosomal dominant transmission with variable penetrance of a mutation of the NF1 gene on 17q11.2 but there is a high rate of de novo mutations (40-50 %). This gene codes for neurofibromin that inactivates cell proliferation and tumor development.
Clinical picture:
- cutaneous manifestations: cafe au lait spots (minimum 6, measuring more than 5 mm before puberty and 15 mm after puberty), lentigines (freckles resembling small spots) in the axillary and inguinal level (children and teens) (80%), cutaneous neurofibromas (often itchy nodules, small subcutaneous tumors that follow a nerve pathway, sometimes large infiltrating masses called plexiform neuromas
- iridial Lisch nodules (coloured iridial hamartoma detectable on slit lamp examination, in 85-90 % of the children over 10 years)
- extracutaneous neurologic manifestations: neurofibromas on the roots of spinal or autonomous nerves, glioma of the chiasma, spinal cord tumors (Astrocytoma, ependymoma), macrocephaly, damage to cerebral arteries (Moyamoya);
- bone abnormalities: congenital pseudarthrosis of the tibia, scoliosis, dysplasia of the sphenoid;
- other conditions: arterial hypertension caused by stenosis of the renal artery or by the secretion of catecholamines in plexiform neurofibromas.
- tumors: Wilms, rhabdomyosarcoma, risk of pheochromocytoma.
- sometimes: short stature, precocious puberty
Anesthetic implications:
difficult intubation in case of facial or oro-pharyngeal neurofibromas. Prudence when performing a neuraxial block. Risk of arterial hypertension. In case of kyphoscoliosis, check the stability of the cervical spine
References :
Updated: October 2018