A sphenoorbital encephalocele — clinical, radiological, and morphological findings

1988

We report here on congenital sphenoorbital encephalocele which could not be disclosed by computed tomography including contrast medium application or by orbital sonography. Surgery and histological examination were necessary to establish correct the diagnosis.

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

2013

Marinesco-Sjogren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum resident co-chaperone, were identified as the main cause of Marinesco-Sjogren syndrome. Here we describe the results of SIL1 mutation analysis in 62 patients presenting with early-onset ataxia, cataracts and myopathy or combinations of at least two of these. We obtained a mutation detection rate of 60% (15/25) among patients with the characteristic Marinesco-Sjogren syndrome triad (ataxia, cataracts, m…

Immunocytochemistry of M-cadherin in mature and regenerating rat muscle

1994

Background: Cadherins are transmembrane proteins mediating calcium-dependent cell–cell adhesion in a cell type-specific manner by means of homophilic binding. M(muscle)-cadherin is a recently detected member of the cadherin family. Methods: We have investigated the localization of M-cadherin innormal and aneurally regenerating skeletal muscle of rat by means of pre-embedding immunocytochemistry. The antibody was directed against the extra-cellular domain of M-cadherin. Results: Myoblasts and myotubes in regenerating muscles tended to be arranged in clusters enclosed by a common basal lamina. Satellite cells of mature muscle fibers were attached to the underlying fiber without separating bas…

Introduction: Recent Advances in Hereditary Neuromuscular Diseases of Childhood

2006

Desmin pathology in neuromuscular diseases

1993

Desmin is an intermediate filament protein that in striated muscle is normally located at Z-bands, beneath the sarcolemma, and prominently at neuromuscular junctions. It is abundant during myogenesis and in regenerating fibers, but decreases in amount with maturation; in regenerating and denervated muscle fibers it is co-expressed with vimentin. Aggregates of desmin occur as nonspecific cytoplasmic bodies or cytoplasmic spheroid complexes, similar to the aggregates of keratin filaments in Mallory bodies or the neurofilament aggregates in Lewy bodies. In all three instances, alpha-B crystallin may be associated with desmin. There are now increasing numbers of neuromuscular disorders in which…

Suprasellar Granular Cell Tumor

1992

A case of a suprasellar granular cell tumor, approximately 1.5 cm in diameter, in a 68-year-old woman is described. Diagnosis was established postoperatively by histopathological examination of the tumor tissue. The preoperative computed tomographic scan revealed a slightly hyperdense suprasellar mass with strong contrast enhancement. There was no evidence of calcification. The T1-weighted image on magnetic resonance imaging scan showed an isointense tumor with non-homogeneous enhancement after intravenous gadolinium diethylene-triamine-pentaacetic acid. In the proton-weighted image, the suprasellar mass presented a non-homogeneously enhanced signal. A non-homogeneous signal reduction was s…

Amyloidoma of the gasserian ganglion as a cause of symptomatic neuralgia of the trigeminal nerve: report of three cases.

1993

Three cases of symptomatic neuralgia of the trigeminal nerve due to an amyloidoma in the gasserian ganglion are described. The correct diagnosis was not made prior to histological examination of the surgical biopsy specimens. Medical history and clinical observation led to the diagnosis of a malignant process of the nasal cavities in the first patient; of an inflammatory dental focus in the second patient; and of multiple sclerosis in the third patient. CT findings were normal in cases 1 and 2; in case 3, a schwannoma was suspected from the CT appearances. In case 1, MRI had not been performed; in cases 2 and 3, MRI revealed a tumour mass which was also considered to be a schwannoma. Histol…

July 2003: 62-year-old female with progressive muscular weakness

2004

The July 2003 Case of the Month (COM). A 62-year-old female patient experienced progressive muscular weakness over the last ten years, involving shoulder and pelvic girdle muscles, paraspinal and facial muscles. A biopsy was taken from the left deltoid muscle where hepatitis vaccination had taken place 4 weeks previously. The specimen revealed macrophagic myofasciitis due to the injection of aluminium-bound vaccines. The finding can be reproduced experimentally by injecting vaccines in rats. The pathomechanism is supposed to involve immune stimulation due to long term persistence of the adjuvant. Macrophagic myofasciitis has been suggested to occasionally cause myopathy but is supposed to b…