Cases reported "Hamartoma"

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1/84. Surgically created fourth-third cranial nerve communication: temporary success in a child with bilateral third nerve hamartomas. Case report.

    Shortly after birth, an otherwise healthy infant developed eye deviation and ptosis due to a hamartomatous lesion of the interpeduncular segment of the right oculomotor nerve. The left nerve became similarly involved when the child was 1.5 years of age. Direct nerve repair was not possible. Instead, the trochlear nerve was divided and its proximal end was attached to the distal end of the third nerve. Elevation of the upper eyelid and partial adduction of the eye developed gradually over the ensuing 3 to 5 months. Both functions were lost after an additional 2 months, presumably as a result of tumor recurrence or neuroma formation. This case report shows that surgically created fourth-third cranial nerve communication is feasible and may merit consideration under similar circumstances.
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2/84. Benign triton tumor of the trigeminal nerve.

    Benign triton tumor (neuromuscular hamartoma) is a rare tumor of the peripheral nerves, comprising mature neural and striated muscle elements. We report the third case, according to the literature, of a benign triton tumor affecting the Vth cranial nerve in a 4-year-old male child. The tumor was seen to involve the mandibular division of the trigeminal nerve in the infratemporal fossa and extend intracranially by eroding the base of middle cranial fossa. The mass was totally excised. In the tumor, bundles of axons intermingling with fascicles of relatively mature skeletal muscle were found. This type of hamartomatous lesions of neuroectodermal-mesenchymal origin could have arisen as the result of incorporation of mesenchymal tissue into nerve sheaths during embryogenesis or aberrant differentiation of neuroectodermal component into mesenchymal elements.
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3/84. Retinal hamartoma in oral-facial-digital syndrome.

    Only recently have intraocular findings been described in oral-facial-digital syndrome (OFDS), including 5 cases of chorioretinal colobomas and 1 case of optic nerve coloboma. We report a case of a new ocular anomaly associated with this syndrome: a retinal hamartoma in a male infant with OFDS. The patient had bilateral retinal masses that were suspicious for retinoblastoma because of a family history of retinoblastoma. physical examination and imaging studies of the retinal masses could not differentiate between retinoblastoma, hamartoma, or persistent hyperplastic primary vitreous. Subsequent pathologic study of an enucleated globe was diagnostic of a retinal hamartoma. This case further illustrates the heterogeneity of ocular anomalies in OFDS and underscores the importance of a complete ophthalmologic evaluation in patients with this syndrome.
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4/84. Macrodystrophia lipomatosa with associated fibrolipomatous hamartoma of the median nerve.

    Macrodystrophia lipomatosa (MDL) is a rare disease typically causing localized gigantism and is often associated with a fibrolipomatous hamartoma (FH) of the median or plantar nerve. A previously unreported case of MDL with associated FH of the median nerve is presented.
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5/84. Hyperostotic macrodactyly and lipofibromatous hamartoma of the median nerve associated with carpal tunnel syndrome.

    A new case with 14-year follow-up of an extremely rare variety of congenital hand macrodactyly is presented. The disease characteristically presents a diffuse proliferation of fibrofatty tissue, but in this special type, osteocartilaginous deposits around the joints can also be found. The case presented included the troublesome feature of a lipofibromatous hamartoma in the median nerve at the wrist and its branches producing carpal tunnel syndrome. The patient obtained benefit from carpal tunnel release and epineurolysis. The hyperostotic development was managed with conservative resection of the periarticular osteochondromas. The literature reviewed suggests that the hyperostotic cases of macrodactyly do not differ from general cases of this congenital condition, except for the osteochondral deposits. These tumours develop during adulthood or after previous trauma, before epiphyseal closure.
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6/84. Diencephalic neuronal hamartoma associated with congenital obstructive hydrocephalus, anophthalmia, cleft lip and palate and severe mental retardation: a possible new syndrome.

    A male infant was born with severe hydrocephalus, bilateral cleft lip/palate, left anophthalmos and right microphthalmos, and an equino-varus foot deformity. Imaging studies showed enlarged lateral ventricles, apparent absence of the corpus callosum and a midline density in the third ventricular region. He had a normal male karyotype. He was severely mentally retarded and died suddenly at 7 years of age. Neuropathological examination of the brain revealed enlarged and polygyric cerebral hemispheres, due to congenital obstructive hydrocephalus, and secondary thinning of the corpus callosum. An unusually large neuronal hamartoma filled the interpeduncular fossa and third ventricle. It was continuous posteriorly with the left thalamus and so was classified as diencephalic rather than as hypothalamic. The right optic nerve merged with the hamartoma, whereas the left nerve was absent. Microscopically the hamartoma consisted of mature grey matter interspersed with narrow bands of white matter. No immature or non-neural elements were identified. This combination of diencephalic neuronal hamartoma, hydrocephalus, ocular and craniofacial abnormalities has not, to our knowledge, previously been described.
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7/84. Lipofibromatous hamartoma and related peripheral nerve lesions.

    Three unusual cases of a rare, tumor-like condition, lipofibromatous hamartoma, are reported. This lesion is composed of fibrous and fatty tissue that infiltrates peripheral nerves, typically on the volar aspect of the upper extremities of children and young adults. All three patients had a painless soft tissue mass of the wrist and/or hand, which followed nerve distribution, and only one patient had neurologic symptoms due to compression. diagnosis was made by open biopsy and histologic examination.
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8/84. Rhabdomyomatous mesenchymal hamartoma of the eyelid: report of a case and literature review.

    PURPOSE: To report a rare case of rhabdomyomatous mesenchymal hamartoma and to compare its features with those cases previously reported. DESIGN: Interventional case report and literature review. INTERVENTION: Complete ophthalmologic and systemic examinations followed by excisional biopsy and histopathologic examination. MAIN OUTCOME MEASURES: Clinical examination features and histopathologic findings. RESULTS: A 6-month-old Latino male presented with a congenital, elevated, smooth, flesh-colored right lower eyelid lesion. An ipsilateral right limbal dermoid and an upper eyelid coloboma were also present. Excisional biopsy of the eyelid lesion revealed randomly oriented mature striated muscle tissue with associated adipose tissue, blood vessels, pilosebaceous units, and peripheral nerves, findings consistent with rhabdomyomatous mesenchymal hamartoma. Of the 24 reported cases (including the current case), eight had associated congenital anomalies. CONCLUSIONS: Although rhabdomyomatous mesenchymal hamartomas are rare and benign, they may be associated with other congenital anomalies and anomaly syndromes. As a result, we recommend systemic evaluation of patients diagnosed with this entity.
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9/84. Functional reconstruction of the lateral face after ablative tumor resection: use of free muscle and musculocutaneous flaps.

    BACKGROUND: Wide resection of tumors of the middle third of the face often results in complex three-dimensional defects and facial paralysis either due to removal of the facial nerve within the tumoral tissue or to extensive resection of the facial muscles. methods: We report the cases of three patients who underwent wide excision of tumors of the cheek region, operations that resulted in tissue defects and facial palsy. Defect reconstruction and facial reanimation was accomplished in one stage through functional muscle transplantation. RESULTS: Follow-up of more than 1 year showed good symmetry at rest and reanimation of the corner of the mouth in all cases, but one patient, in which the ipsilateral facial main trunk was used as motor nerve supply to the transplanted muscle, developed significant muscle contracture and binding of the cheek skin. CONCLUSIONS: Every effort should be made to optimize the functional and cosmetic outcomes of neurovascular muscle transfers through precise planning and careful execution of the intricate details of the surgical technique for muscle transplantation.
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10/84. diffusion MRI in neurofibromatosis type 1: ADC evaluations of the optic pathways, and a comparison with normal individuals.

    In a control group of 12 normal children (ages ranging from 9 months to 3 years; mean=1.6 years) the mean apparent diffusion coefficient (ADC) value of the normal white matter, obtained from automatically generated ADC maps, was 0.84 /- 0.14 x 10(-3)mm(2)/s. A patient with neurofibromatosis type 1 with bilateral optic gliomas, and extensive optic pathway involvement was evaluated by diffusion MRI. Multiple measurements of ADC values throughout the involved optic radiations revealed a higher mean value: 1.16 /- 0.06 x 10(-3)mm(2)/s than that of the normal white matter, suggesting relatively high molecular motion in these regions, probably representing myelin vacuolization. ADC evaluation of a thalamic hamartoma revealed a lower value (=1.06 x 10(-3)mm(2)/s) than this. The mean ADC value obtained from multiple measurements of the enlarged optic chiasm, and intraorbital portions of the nerve was similar (=0.81 /- 0.09 x 10(-3)mm(2)/s) to that of the normal cerebral white matter of the control cases. It appears that diffusion imaging can be useful in evaluation of optic pathway involvement in NF1, and might contribute to differentiating optic gliomas from hamartomas, and myelin vacuolization, however, further studies will be required for assessing the role of diffusion imaging in such lesions.
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