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PubMed2003

Familial neurofibromatosis-1 and Gilbert syndrome.

BACKGROUND: Neurofibromatosis (NF) is a genetic disorder of the neural sheet, affecting almost all organ systems. METHOD: A family that consisted of the father and his three children, two males and one female, having NF-1 is evaluated in detail for cosmetic purposes. The routine preoperative laboratory examinations, including complete blood counts, serum biochemistries, urinary analysis, extremity and chest roentgenograms, ultrasounds of the abdomen and the affected regions, and pelvic computed tomographies, revealed characteristics of NF-1 and unexpected hyperbilirubinemia. The patients are evaluated further for the cause of hyperbilirubinemia by the fasting test. Variously localized plexiform neurofibromas of the three children are totally excised. RESULTS: The father was affected as a result of a mutation, and his three children had inherited the disease. The father, having subcutaneous neurofibromas, differs from the children, as they have elephantiasis neurofibromatosa. The children had various rare clinical presentations besides disfiguring deformities. Two male patients had retroperitoneal neurofibromas, and one had splenomegaly and osseous changes. Gilbert's disease was diagnosed, interestingly, and coincidentally in the three patients with elephantiasis due to NF-1. DISCUSSION: An interesting diagnosis of NF occurring coincidentally with Gilbert's disease in a family is reported. This clinical study is the first report of Gilbert's disease accompanying familial NF.

Adult↗
PubMedDate not supplied

Association of piebaldism and neurofibromatosis type 1 in a girl.

We report an 11-year-old girl with both piebaldism and neurofibromatosis type 1 (NF1). The patient had large depigmented patches on her lower limbs and a white forelock since birth. In addition, some café au lait spots were present on her trunk at birth and had increased in number and size during childhood in concomitance with the appearance of axillary and inguinal freckling. Neither neurofibromas nor Lisch nodules were detected and the patient was otherwise healthy. Pedigree analysis revealed inheritance for piebaldism on the paternal side. To our knowledge, the association of piebaldism and NF1 has been described previously in only three patients. Awareness of this rare association is relevant to ensure early diagnosis and adequate follow-up for NF1.

Child↗
PubMed2003

[Elephantiasis of the thoracic wall within the scope of von Recklinghausen neurofibromatosis, case report].

Neurofibromas are benign tumors arising from neuroectodermal tissues. They may occur as solitary lesions, or multiple, in which case they are referred to as neurofibromatosis, or von Recklinghausen's disease. We report about a 17-year-old patient with neurofibromatous elephantiasis located in the lateral aspect of the left hemithorax. CT showed massive chest wall infiltration and retroperitoneal tumor growth, but no abnormalities of the cranium. Our surgical treatment consisted of a two-stage, palliative tumor debulking and defect coverage with a splitthickness skin graft. The operative and postoperative course was uneventful.

Adolescent↗
PubMed1976

[Congenital bowing of the tibia in neurofibromatosis von Recklinghausen (author's transl)].

There is a close, but not constant, relationship between congenital bowing of the tibia or infantile pseudo-arthrosis of the tibia and von Recklinghausen's neurofibromatosis. In about 40% it is possible to confirm the diagnosis by examining relatives, but the radiological findings and the course of the disease, as well as by histological examination. Anterior bowing with dysplastic-sclerotic bone changes results in the "high risk tibia". This may lead to a pathological fracture. Treatment depends on the clinical findings and radiological changes. It should be aimed at preventing pathological fractures and pseudarthrosis.

Adolescent↗
PubMed1978

[Plain film findings in the skull in neurofibromatosis (author's transl)].

The radiologically demonstrable changes in the skull, which occur in neurofibromatosis, are described. The mesodermal dysplastic changes in the sphenoid and the facial skeleton are diagnostic. Changes secondary to blastomatous processes are not always a consequence of the presence of a tumour; they may result from developmental abnormalities or dural protrusion. In addition one may encounter a series of changes which are not in themselves diagnostic. Problems in the diagnoses and the differential diagnosis are discussed.

Child↗
PubMedDate not supplied

[Pseudoarthrosis in neurofibromatosis type 1].

Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease. The clinical manifestations are diverse. Some of the skeletal changes are most relevant to the patient. We report on 9 patients with NF1 who presented with typical pseudarthrosis. In 8 of these children the lower extremity was involved. In 2 cases lesions of both tibia and fibula were found, in one case even over long segments with a fully instable leg. One child had a complete pseudarthrosis of the radius and ulna. This report analyses the bony changes, the operations performed and the possible technical improvements to be made. The present study as well as other recent studies suggest that bony lesions should be operated early using microsurgical methods.

Child, Preschool↗
PubMed2001

[Early abdominal manifestation of neurofibromatosis type ! in a 12-year-old boy]].

Neurofibromatosis type 1 (NF 1) is a neuroectodermal tumor in which abdominal manifestations occur in about 25% of cases in addition to the typical cutaneous lesions. A child with a severe form of an abdominal manifestation of NF 1 was treated in the Hanover Medical School by tumorresection. Pre-operative diagnosis using CT, angiography and ultrasound showed an enormous abdominal tumor constricting the mesenteric vessels. The tumor and the affected portion of the small intestine (150 cms) were removed surgically. No tumor recurrence was observed nine months after operation. Surgical removal is the only currently available therapy for treating tumors of this size.

Child↗
PubMed2001

Non-neoplastic brain abnormalities on MRI in children and adolescents with neurofibromatosis type 1.

The occurrence, localization and longitudinal course of non-neoplastic MRI abnormalities in children and adolescents with neurofibromatosis type 1 (NF 1) were studied. Thirty-five patients who satisfied the criteria for NF 1 underwent 114 MRI examinations. They were 9 months to 18 years old at their first examination, and 23 were examined more than once (2 - 11 times). The follow-up time varied from 3 months to 10 years (mean 4 years). Thirty-one patients (89%) showed focal high signal intensities on T2-weighted images in the cerebellum, brain stem, deep cerebral gray matter and, less frequently, in the cerebral white matter. Changes were also seen in 80% and 50% of the proton density-weighted and T1-weighted images, respectively. Newly appearing, growing, decreasing and disappearing lesions occurred contemporaneously and in all ages. New lesions still developed in the late teens. Three lesions showed temporary contrast enhancement. Five expansive lesions were found in four individuals without related clinical symptoms. Four of them receded during follow-up. These cases indicate that the differential diagnosis between neoplastic and non-neoplastic lesions is not clear. The results support the view that high T2-signal lesions are so common in NF 1 that they should be included as another criterion for the diagnosis.

Adolescent↗
PubMed2003

[Cognitive impairment in adults with neurofibromatosis type 1].

Cognitive impairment is a common phenomenon in children with neurofibromatosis type 1 (NF1), but only little is known about its nature and frequency in adult NF1-patients. Using a comprehensive psychometric test battery, we investigated 20 patients with NF1 and 20 age and gender matched control subjects without neurological diseases. Results showed slightly lowered test scores in patients compared with controls but no specific intellectual impairment. On a computerized test of selective attention, the NF1-group had significant slower reaction times. Also, three out of four memory tests and a test of visuoconstructive abilities showed poorer test results in the NF1-patients. Executive functions however were not affected. The findings agreed well with the test profile in NF1-children and supported the idea of a continuum between childhood and adulthood. Observations are discussed in the context of studies investigating the association of cognitive deficits with either intracranial lesions or alterations in the neurofibromin expression.

Adult↗
PubMed2005

Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients.

BACKGROUND: Neurofibromatosis type 2 (NF2) is an autosomal dominant disease characterised by the development of multiple nervous system tumours, ocular abnormalities, and skin tumours. Although classically considered a disease of adults, initial signs and/or symptoms may be evident in childhood and are often unrecognised. OBJECTIVES: The aim of this study was to identify the earliest clinical presentations of NF2 and to characterise the clinical course and outcome in children with NF2. METHODS: We have performed a retrospective (years 1990-1998) and prospective (years 1998-2004) study of 24 patients (10 males, 14 females; currently aged 4 to 22 years) fulfilling the revised (Manchester) NF2 criteria seen at the Universities of Catania and Rome, Italy. RESULTS: Causes of referral prior to a definitive diagnosis of NF2 were: 1) Ophthalmologic problems: early onset lens opacities (n = 3); strabismus (n = 3) and amblyopia (n = 3) (due to underlying cranial nerves and/or brain tumours); 2) Otolaryngology problems: hearing loss and tinnitus (n = 2) in early teens disregarded or treated as ear infections; hoarse (n = 1) or bitonal (n = 1) voice; 3) Neurological dysfunction: seizures secondary to intracranial meningioma (n = 1) or vestibular schwannomas (VS) (n = 1), neurological dysfunction related to brainstem and/or spinal cord tumours (n = 7), isolated and multiple cranial nerve deficits (n = 10), and peripheral neuropathy secondary to schwannomas (n = 4); 4) Skin manifestations: schwannomas misdiagnosed as neurofibromas because of associated café-au-lait spots (n = 2); café-au-lait spots (n = 8) and skin tumours (n = 3). A family history was relevant in 20 % of the patients. Molecular genetic analysis of the NF2 gene revealed typical truncating mutations in all the 5 familial cases and in 2/10 sporadic cases analysed. CONCLUSIONS: Children with NF2 often first come to medical attention because of ocular, subtle skin, or neurological problems the significance of which is realised when they later present with more classical symptoms due to bilateral VS or other intracranial tumours. The clinical course at this young age is highly variable, depending on tumour burden, early surgical intervention, surgical outcome after tumour resection, and complications.

Adolescent↗
PubMed2006

Cervicothoracic malignant peripheral nerve sheath tumor in a 12-year-old girl with neurofibromatosis type 1.

We encountered a 12-year-old girl with neurofibromatosis type 1 (NF1) who developed a low-grade cervicothoracic malignant peripheral nerve sheath tumor (MPNST). Computed tomography of the neck showed an elastic firm tumor measuring 7 x 6 x 4 cm and arising from the upper mediastinum. She had no pain or neurological symptoms, but the tumor enlarged to ca. 8 x 8 x 4 cm over the following 7 months. Although we had diagnosed a neurofibroma by preoperative incisional biopsy, the resected tumor showed low-grade MPNST in the central portion of the tumor. In treating a tumor in a patient with NF1, we must recognize that partial biopsies do not necessarily establish a definitive diagnosis and that a growing tumor may indicate malignant transformation.

Child↗
PubMed1991

[Clinical relevance of signal-intense foci in cerebral magnetic resonance tomography in neurofibromatosis].

37 patients with documented neurofibromatosis (15 children and 22 adults) had MR examination of the cerebrum. To determine the clinical relevance of signalintense foci in MRT EEG, BAEP and a neuropsychological test batteries was carried out. Our investigations showed that signalintense areas, which possibly represent dysplastic lesions, did not correlate with neurological deficits, epileptic seizures and cognitive disabilities. It remains unclear whether these lesions are of a potential malignancy.

Adolescent↗
PubMed1999

Spontaneous improvement of optic pathway lesions in children with neurofibromatosis type 1.

Two cases of spontaneous improvement of optic pathway lesions in neurofibromatosis type 1 are reported. At time of diagnosis the children were aged 21 and 32 months respectively; they have been followed by both MRI and clinical evaluation for 5 and 4 years. MRI findings of the first 19 months of follow-up for Case 1 have been described by us before. On MRI serial evaluation, Case 1 showed an almost complete normalization of the size of lesions and a resolution of enhancement, whereas Case 2 showed a slight decrease in the size of lesions and a resolution of enhancement. From the clinical point of view Case 1 showed a normalization of his clinical signs, whereas in Case 2, a visual improvement was only slight, if at all present. In Case 1, the clinical improvement seemed to follow the spontaneous regression of the lesions detected by MRI.

Child, Preschool↗
PubMed1990

[Neurofibromatosis in the ENT field].

As the neurofibromatosis does not only show on the neuroderm, but also on the mesoderm, all tissues and organs of the human body can be affected. A central and peripheral form is known. Classical symptoms and major diagnostic criteria will be described. The therapy will be illustrated on four cases.

Adolescent↗
PubMed1999

[Long-term outcome of gliomas of the visual pathway in type 1 neurofibromatosis].

BACKGROUND: Optic gliomas are frequently associated with neurofibromatosis type 1 (NF1) and belong to the diagnostic criteria of NF1. Different growth rates require differentiated strategies for screening and observation. PATIENTS AND METHODS: 29 patients (25 children < 11 years, 4 adults > 18 years) with visual pathway tumors and NF1 were examined neurologically, ophthalmogically, by means of MRI and VEP. Results were set into context with preceding investigations (mean follow up time 6.5 years). RESULTS: 11 children showed a stable condition, 14 an unfavorable process with substantial loss of vision. Children with an unfavorable process showed a lower age at diagnosis (3.2 versus 5.8 years; p < 0.05), more frequently strabism (11/14 versus 1/11; p < 0.05), optic atrophy (12/14 versus 1/11; p < 0.05), pathological VEP (9/9 versus 2/10; p = 0.001), visual field defects (9/9 versus 1/9) and involvement of the optic chiasm (11/14 versus 3/11; p < 0.05) than children with a stable condition. 3 of 4 adults had no visual symptoms despite involvement of the optic chiasm. CONCLUSIONS: The crucial prognostic factor is the patient's age at the time of diagnosis. Optic gliomas which become symptomatic in early childhood (< 6 years) grow rapidly and require frequent ophthalmologic investigations and MRI. Tumors diagnosed in late childhood (> 6 years) do not progress, allowing for gradual extension of intervals between ophthalmological investigations.

Adolescent↗
PubMedDate not supplied

[A 10-year follow-up of the Harrington operation in congenital scoliosis and scoliosis due to poliomyelitis and neurofibromatosis].

From 1972 through 1976 40 patients with congenital scoliosis, scoliosis in neurofibromatosis and scoliosis following poliomyelitis underwent posterior spine fusion using Harrington instrumentation. Follow up was 10 years or more with an average of 12 years. 63 percent of all patients showed a curve of more than 90 degrees before operation. The different types of scolioses revealed characteristical results according to their etiology during long time follow up. Concerning long time reduction of curve the best results were obtained in patients following poliomyelitis. Patients with congenital and neurofibromatous scoliosis showed loss of correction 2 and 5 years postoperatively.

Adolescent↗
PubMed1989

[Cerebral MRT in neurofibromatosis: gliosis versus neoplasia?].

15 patients aged 1-39 years with documented neurofibromatosis had MR examinations of the cerebrum within the scope of a basic diagnosis and therapy programme. Clinical examination did not lead to pathologic findings for 7 of the patients; 3 patients suffered from general developmental disabilities. A neurologico-psychiatric examination showed pathological findings in 5 patients. Signal-intense foci in proton density and T2-weighted MR images were found in the globus pallidus, thalamus, hippocampus, cerebellum and midbrain. In 2 patients, these foci could be found as well in T1-weighted images. Differentiation between gliosis areas and low grade astrocytomas was not possible in MR.

Adolescent↗
PubMed1987

[MRT in neurofibromatosis and tuberous sclerosis].

The relatively rare neurocutaneous syndromes may produce neurological symptoms during childhood. After closure of the fontanelle, the radiological methods of choice are CT and MRT. The value of these two methods is demonstrated by twelve examples (eight neurofibromatoses, four tuberous scleroses). CT is superior to MRT in being able to show calcification; it is therefore the method of choice for tuberous sclerosis. On the other hand, MRT may show foci of neurofibromatosis; these can hardly be seen on CT. In order to show cerebral lesions in these two conditions, T2-weighted sequences are necessary.

Adolescent↗