Unilateral ocular ptosis in a patient with type 1 neurofibromatosis

Context: Neurofibromatosis type 1 (NF1) is a genetic condition characterized by “café au lait” spots, axillary and inguinal ephelides and cutaneous neurofibromas. Case report: A 16 year-old famele patient with description that her father and other family members had the “café au lait” spots. From the age of 5, she started with slight facial asymmetry, which increased over time. On physical exam at 16 years old, she had facial asymmetry, convergent strabismus with a left lower eyelid cleft than the contralateral cleft, in addition to left eyelid ptosis and left eye proptosis. There were also “café au lait” spots and ephelides on the body. Computerized tomography scan of the skull showed an important architecture distortion of the skull base’s bones of the anterior and middle fossa of the skull, sphenoid dysplasia and left orbital encephalocele. In the ophthalmological evaluation, corneal opacity and ocular proptosis involving the left eye were found. At the age of 17, she underwent a complex craniotomy with craniofacial reconstruction due to temporo-fronto-orbital dysplasia. Conclusions: The clinical findings and the patient’s family history were compatible with the diagnosis of NF1. Bone changes, such as sphenoid dysplasia, may be present and lead to symptoms. In this case, bone changes in the skull led to the occurrence of an encephalocele, which in turn caused an ocular proptosis.

Imaging Findings of Jugular Foramen Meningocele in a Neurofibromatosis Type 1 Patient

Neurofibromatosis type I (NF1) is a neurocutaneous disorder that involves autosomal dominant transmission. Skull defects, including sphenoid dysplasia and calvarial defects, are a rare finding in patients with NF1. Spinal meningocele and sphenoid wing dysplasia have been identified in NF1 but the occurrence of meningoceles at the skull base is extremely rare. A rare instance of jugular foramen meningocele being identified in an NF1 patient on imaging is described in this paper. To the best of our knowledge, only two such cases have been reported in the English literature.

Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1

Object Skull defects, including sphenoid dysplasia and calvarial defects, are rare but distinct findings in patients with neurofibromatosis Type 1 (NF1). The underlying pathophysiology is unclear. The goal of this study was to identify the clinical characteristics and natural history of skull defects in patients with NF1. Methods An electronic search engine of medical records was used to identify patients with NF1 and bony skull anomalies. All clinical, radiographic, pathology, and operative reports were reviewed. The relationship between bony anomalies and significant clinical associations was evaluated. This study received institutional review board approval. Results Twenty-one patients were identified. The mean age at NF1 diagnosis was 4.2 years. The mean age at skull defect diagnosis was 8.8 years (9.7 years in the sphenoid wing dysplasia group and 11.9 years in the calvarial defect group). Sphenoid dysplasia was associated with a plexiform neurofibroma or dural ectasia in 73.3% and 80.0% of cases, respectively. Calvarial defects were associated with a plexiform neurofibroma or dural ectasia in 66.7% and 33.3% of patients, respectively. An absence of either an associated neurofibroma or ectasia was not noted in any patient with sphenoid wing dysplasia or 25.0% of those with calvarial defects. In 6 patients, both types of skull defects presented simultaneously. Serial imaging studies were obtained for a mean follow-up time of 7.5 years (range 0.4–20.0 years). Of these patients with serial imaging, radiographic progression was found in 60% of cases of calvarial defects and 56% of cases of sphenoid wing dysplasia. Two patients underwent surgical repair of a skull defect, and both required repeat procedures. Conclusions The majority of skull defects in patients with NF1 were associated with an adjacent structural lesion, such as a plexiform neurofibroma or dural ectasia. This findings from this cohort also support the concept of progression in defect size in more than half of the patients. Potential mechanisms by which these secondary lesions contribute to pathogenesis of the bony defect may include changes in the bony microenvironment. A better understanding of the pathophysiology of skull defects will help guide detection, improve treatment and outcome, and may contribute to the understanding of the pathogenesis of bony lesions in NF1.

Neurofibromatosis type I (von Recklinghausen’s disease): A Report of Three Cases / Neurofibromatoza tip I (von Recklinghausenova bolest): prikaz tri slučaja

Neurofibromatosis type I (NF1) is an autosomal dominant, multisystemic disease that usually affects the skin, nervous system and bones. Diagnosis is made by matching at least two of the following 7 diagnostic criteria: six or more caféau- lait macules over 15 mm in diameter, two or more neurofibromas, axillary and/or inguinal freckles, optic glioma, two or more Lisch’s nodules (iris hamartoma), changes in the bones in the form of sphenoid dysplasia, thinning of the cortex of long bones and existence of neurofibromatosis in the first degree relatives. We report three patients, two men and a woman aged 18 to 33 years, in whom the first changes occurred at puberty, and there was no positive family history in any of them. All three patients had café-au-lait spots over 15 mm in diameter and numerous localized neurofibromas on the skin of the trunk and extremities that were histologically verified. In two patients, ophthalmic examinations recorded Lisch’s nodules in the iris. In one of the patients, MRI of the head, revealed presence of oval lesions with diameters of 10-15 mm, which may correspond to neurofibromas, and in the other patient fibrous dysplasia of the femur and tibia were observed. Psychological testing in one patient revealed IQ at the lower limits of average (IQ 68). After the diagnosis of neurofibromatosis type I, the patients were given advice about the disease and a plan for the monitoring and control of possible symptoms, and also the possibility of genetic testing during pregnancy. A multidisciplinary approach is required for diagnosing and monitoring of patients with neurofibromatosis type 1.