[A retrospective study of six patients with late-onset Pompe disease]. / Forme adulte de la maladie de Pompe: à propos de six cas de la région du Languedoc-Roussillon.

INTRODUCTION: Pompe's disease, also called glycogen storage disease type II or acid maltase deficiency, is an autosomal recessive disease caused by an enzymatic deficiency of acid-alpha-glucosidase (GAA). This deficiency causes an accumulation of intralysosomal glycogen in different organs. The classic form appears in the newborn with a very severe hypotonia and cardiomyopathy, which lead to death before age two. Less frequently, the disease appears only in childhood or in adult life, so called late-onset Pompe's disease. This form causes a very progressive limb-girdle myopathy and restrictive respiratory failure. The diagnosis is based on a low level of GAA either in the muscle biopsy or in the leucocytes. We report six cases of late-onset Pompe's disease from the Languedoc-Roussillon district. METHOD: Our work was a retrospective analysis of all cases of Pompe disease diagnosed in adults between 1975 and 2006 at the Montpellier and Nîmes University Hospital. We describe the clinical presentation and course of this form and explain the diagnostic approach. Results. The mean age at onset was 44.3 years (range: 36-60 years). The first symptom was fatigability (50%), gait difficulty (50%) and dyspnea (16%). The mean delay from symptom onset to diagnosis was 8.4 years (range: 17 years). Fatal outcome due to respiratory failure was noted in three patients. The mean time between symptom onset and death (four patients) was 20.75 years (range: 37 years). The diagnosis was made on the muscle biopsy showing a low level of GAA. Muscle was strictly normal on the morphologic study in one patient, pointing out the requirement for enzymatic analysis. Molecular confirmation was available in one patient. DISCUSSION: Late-onset Pompe's disease is a possible cause of limb-girdle myopathy. Respiratory involvement is a characteristic feature. Enzymatic assay of GAA activity on the muscle biopsy is required for certain diagnosis. CONCLUSION: It is very important to recognize the adult form of Pompe's disease, a possible cause of limb-girdle myopathy, in order to search for respiratory failure and propose non-invasive ventilation if necessary. Moreover, substitutive therapy (recombinant acid-alpha-glucosidase) has shown efficiency for the classical infantile form of Pompe's disease and such treatment could be proposed for the adult form if larger studies confirm its efficacy.

[Adult onset nemaline myopathy revealed by respiratory insufficiency]. / Révélation d'une myopathie à bâtonnets par une insuffisance respiratoire de l'adulte.

INTRODUCTION: We report a case of nemaline myopathy revealed in adulthood by a respiratory insufficiency. CASE REPORT: A 26-year-old patient, without past history, was admitted with respiratory and right cardiac insufficiency which appeared in a few days. There was a severe restrictive lung impairment with nocturnal hypoventilation. Minor skeletal abnormalities and areflexia suggested a congenital myopathy. Muscle biopsy revealed a nemaline myopathy. CONCLUSION: Respiratory insufficiency is common in nemaline myopathy with infancy or childhood onset, but very rare in adults. It may be explained by multiple mechanisms.

[Non-Hodgkin's malignant lymphoma of the peripheral nervous system: clinicopathological correlations in ten patients]. / Lymphomes malins non Hodgkiniens du système nerveux périphérique. Corrélations anatomo-cliniques dans 10 observations.

INTRODUCTION: Identifying tumor infiltration or compression in patients with non-Hodgkin's malignant lymphoma presenting peripheral neuropathy can be a difficult task. METHODS: We collected a series of patients with peripheral neuropathy with demonstrated lymphomatous infiltration or compression managed between October 1977 and October 2001 to search for clinico-pathological correlations. RESULTS: Ten cases were reviewed. Neurological manifestations were the inaugural symptom of the disease in 7 patients. Clinical presentations included 5 focal (3 cranial nerve palsies, 2 brachial radiculopathies) and 5 diffuse neuropathies (3 polyradiculoneuropathies, 1 polyneuropathy and 1 mononeuritis multiplex). The mechanisms of peripheral nerve involvement were classified into lymphomatous meningoradiculitis (5 cases), involvement of cranial nerves or spinal roots in their extraneuraxial course (3 cases) and infiltration of distal peripheral nerves (2 cases). Four long lasting survivals after treatment were observed. CONCLUSIONS: Prognosis depends much more on the haematological disease than on the neurological symptoms or tumor location.

Congenital muscular dystrophy and cerebellar atrophy.

Two siblings and two other unrelated patients had congenital muscular weakness and dystrophic changes but normal immunocytochemical stainings for merosin, dystrophin, and dystrophin-related proteins on muscle biopsy. All had marked ataxia and cerebellar atrophy or hypoplasia. Cerebral white matter and cortical organization appeared normal.

McArdle's disease in childhood: report of a new case.

McArdle's disease (glycogenosis type V) is an inherited glycogen storage disease characterized clinically by myalgia, cramps and sometimes myoglobinuria, triggered by exercise. The onset of exercise intolerance is usually in late childhood or adolescence and diagnosis is exceptionally established during infancy. We report the case of a 6-year-old girl who had been complaining of aching muscles for a long time, and who presented after a near-drowning incident, with extensive muscle necrosis, probably secondary to myophosphorylase deficiency-induced cramps. These unusual manifestations led to the diagnosis of this rare disorder. We compare the clinical findings of this case to nine previous reports. This highlights the heterogeneous spectrum of this disease in childhood and supports the distinction of three clinical pictures in childhood: a neonatal form rapidly fatal, a milder form with congenital myopathic symptoms and a benign classical form with myalgia, cramps and pigmenturia.

[Prostaglandins and the uterine cervix. Immunofluorescence study]. / Prostaglandines et col utérin. Etude en immunofluorescence.

The authors, using immunofluorescence, studied the effect of different prostaglandins (F2 alpha, E1, dimethyl PGE1) on cervical connective tissue. They analysed 80 biopsies which were carried out before and after the prostaglandins had been applied locally, both in pregnant and in non-pregnant women. The method showed that there were changes in the collagen fibres but not in fibronectin. On the other hand, there does not seem to be any difference in the collagen effect with the methods used: 1) between pregnant and non-pregnant women, and 2) between the different types of prostaglandin that were studied.

[Nemaline myopathy. General review apropos of 3 cases]. / La myopathie à bâtonnets. Revue générale à propos de 3 observations.

Three cases of nemaline myopathy are reported. The first one was characterized by delayed motor milestones, hypotonia and proximal weakness in a 2-year-old girld. The second case was diagnosed at 19 in a boy who suffered from a severe scoliosis without any neurological sign. The third patient was a 31 year-old man who had a progressive muscular weakness of limb girdles. Muscle biopsy revealed rods in muscle fibers with Gomori trichrome staining in two cases, and by electron microscopy in one case only. Variations of fiber calibration, fiber I predominance and a myofibrillar disorganization were seen in two cases. Clinical, histopathological and physiopathological of nemaline myopathy are discussed.

Distribution of the Mr 52,000 estrogen-regulated protein in benign breast diseases and other tissues by immunohistochemistry.

A secreted glycoprotein with a molecular weight of 52,000 is induced by estrogen in breast cancer cells and has been purified to prepare monoclonal antibodies. The protein has been detected in some breast cancers but not in normal breast and uterus. In order to study its potential value as a marker, we have tested by immunohistochemistry frozen sections of several normal and malignant tissues and of benign mastopathies. Among different tissues tested, the Mr 52,000 protein was detected only in liver, sweat glands, and some sebaceous glands, and in malignant melanomas and some breast tumors. Other estrogen-responsive tissues (ovary, placenta, endometrium, etc.) gave negative results. Immunoradiometric assay of the Mr 52,000 protein in biological fluid revealed an elevated concentration in cyst fluid (0.5 to 7.4 micrograms/ml), pleural effusions of certain metastatic breast cancer, and sweat. By immunohistochemistry, the Mr 52,000 antigen was also detected in 42% of 129 benign mastopathies. Gynecomastia, fibrous disease, fibroadenoma, and adenosis were mainly negative, whereas ductal hyperplasia and cysts were positive. The Mr 52,000 protein was found mostly in proliferative ducts and in cysts but not in lobular hyperplasia and nonproliferative lesions without cyst. More Mr 52,000 protein was found in postmenopausal patients than in premenopausal patients. We conclude that the Mr 52,000 protein is a marker associated with mammary cysts and proliferative ducts. On the basis of the increased risk of breast cancer in proliferative mastopathies, we suggest that the Mr 52,000 protein is useful for predicting high-risk mastopathies acting as a marker associated with the proliferation of ductal tissue.

[Cockayne syndrome. Study of a peripheral nerve biopsy]. / Syndrome de Cockayne. Etude d'une biopsie de nerf périphérique.

A sural nerve biopsy was performed in a 10 year-old girl with a Cockayne syndrome. Morphometric and electron microscope studies revealed signs of a chronic demyelinating disease and some dense inclusions in Schwann cells. The significance of these abnormalities is discussed from a review of literature.

[Adrenomyeloneuropathy. Morphometric and ultrastructural study of the peripheral nerves]. / Adrénomyéloneuropathie. Etude morphométrique et ultrastructurale du nerf périphérique.

A sural nerve biopsy was performed in a case of adrenomyeloneuropathy which was confirmed by biochemical investigations. Morphometric study of the nerve revealed a loss of large myelinated fibers with signs of demyelination, and normal unmyelinated fibers. Electron microscopic study showed typical lipid inclusions in some histiocytes and Schwann cells. The interest of nerve biopsy in histopathological diagnosis of adrenomyeloneuropathy is emphasized.

Multicore disease and Marfan's syndrome: a case report.

A 16-year-old girl with a generalized nonprogressive motor weakness and clinical signs of Marfan's syndrome is reported. A minicore disease was diagnosed after muscle biopsy. The association of Marfan's syndrome with muscular dystrophies is discussed.

[Peripheral nerve lesions in chloroquine-induced neuromyopathies]. / Lésions du nerf périphérique dans la neuromyopathie à la chloroquine.

Two cases of chloroquine-induced neuromyopathy are described. The clinical picture is a proximal weakness of lower limbs in one case, and a sensory peripheral neuropathy in the other. Vacuolar changes were not found in muscle biopsies, but electron microscopic studies revealed characteristic dense and lamellated inclusion bodies in muscle fibers and endothelial cells. Sural nerve biopsies were performed in each case. There was a severe loss of myelinated fibers in one. Dense and lamellated inclusions were found in schwann cells, perineural and endothelial cells. In a literature review, only one case with sural nerve biopsy is found in human pathology of chloroquine neuromyopathy.

[Congenital vascular tumor of the larynx: cellular hemangioma]. / Tumeur vasculaire congénitale du larynx: hémangiome cellulaire.

A 9 year old child was operated upon for a very vascular tumor of the right piriform sinus, signs of which had been present at birth. Histopathologic and ultrastructural examinations showed the lesion to be composed of both endothelial and pericytic elements, suggesting the diagnosis of a cellular hemangioma. This tumoral variety, particularly rare in the larynx, has been distinguished from the group of hemangiopericytomas described by Stout and Murray, not only by its usual congenital character and course but also by its specific structure.

[Congenital neuropathy caused by hypomyelination]. / Neuropathie congénitale par hypomyélinisation.

A 9 year-old girl with congenital hypomyelination neuropathy is reported. Clinical features were delayed motor development, disturbances of gait, deep sensory defect, areflexia and mild distal palsy with claw feet. E.M.G. revealed dramatically diminished motor conduction velocities. C.S.F. protein was normal. Histological examination of the right sural nerve revealed a severe loss of myelinated fibers. On electron microscopy, poorly myelinated and large amyelinated axons were enclosed by normal Schwann cells and surrounded by multiple single or double layered basement membranes which were concentrically arranged in an onion bulb pattern. This case of congenital hypomyelination neuropathy is compared with ten similar cases in the literature.

[Muscle biopsy in the diagnosis of polymyositis. Apropos of 13 cases]. / Apport de la biopsie musculaire au diagnostic des polymyosites. A propos de treize observations.

Muscle biopsies from 13 patients with polymyositis were studied with light microscopy, histoenzymology and electron microscopy. Light microscopy often shows degenerative muscle fibers and endomysial collections of inflammatory cells. These findings are helpful for the diagnosis but are not consistent. Histoenzymology may other features such as perifascicular atrophy, and alterations in cytoplasmic staining patterns, but these changes are non specific. Electron microscopy frequently reveals vascular changes, especially pseudoviral inclusions, which are the most reliable factors and the most frequently observed changes in ultrastructural diagnosis.

Leber's disease with spastic paraplegia and peripheral neuropathy. Case report with nerve biopsy study.

A 43-year-old patient with familial Leber's optic atrophy suffered from spastic paraplegia. Physical examination disclosed cerebellar and pyramidal signs and signs of peripheral neuropathy. On sural nerve biopsy, there were few large myelinated fibers, signs of axonal degeneration and thin myelin sheets. This case suggests an overlap syndrome with central and peripheral nervous system features of Leber's disease, spinocerebellar degeneration and peroneal muscular atrophy.