GMS syndrome is a syndrome characterised by goniodysgenesis, intellectual disability, and short stature. References


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Solitary neurofibroma, affecting 8–12% of patients with NF-1. This occurs in a deep nerve trunk. Diagnosis by cross-sectional imaging (e.g., computed tomography or magnetic resonance) as a fusiform enlargement of a nerve. Schwannomas, peripheral nerve-sheath tumors which are seen with increased frequency in NF-1. The major distinction between a schwannoma and a solitary neurofibroma is that a schwannoma can be resected while sparing the underlying nerve, whereas resection of a neurofibroma requires the sacrifice of the underlying nerve. Nerve root neurofibroma. Bones, especially the ribs, can develop chronic erosions (pits) from the constant pressure of adjacent neurofibroma or Schwannoma. Similarly, the neural foramen of the spine can be widened due to the presence of a nerve root neurofibroma or schwannoma. Surgery may be needed when NF-1 related tumors compress organs or other structures. Nerve sheath tumor
Chronic pain, numbness, and/or paralysis due to peripheral nerve sheath tumor. Other complications
Renal artery anomalies or pheochromocytoma and associated chronic hypertension
Schwannoma
Plexiform fibromas
Optic nerve glioma
Epilepsy

Central nervous system disease
Epilepsy
Occurrence. Epileptic seizures have been reported in up to 7% of NF-1 patients. Diagnosis. Electroencephalograph, magnetic resonance imaging, computed tomographic scan, single-photon emission CT and positron emission tomographic scan. Etiology. Due to cerebral tumors, cortical malformation, mesial temporal sclerosis. Therapy. Drug therapy (57% amenable) where not resistant (29%). Glial tumors
Intracranially, NF-1 patients have a predisposition to develop glial tumors of the central nervous system, primarily:
Optic nerve gliomas and associated blindness.