Cases reported "Disease Progression"

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1/5. Unusual clinical expression of dystrophinopathy in a female, mimicking a congenital myopathy.

    A 25-year-old woman with negative family history and delayed motor development presented hypotrophy of the right lower limb and calf hypertrophy since age 7 and she complained of muscle weakness since 23. Neurological examination showed a thin elongated face, high-arched palate, high-pitched voice, proximal wasting and weakness, impairment of distal muscles in the lower limbs. CK was 3, 034 U/l, EMG showed a myopathic pattern. Muscle biopsy displayed dystrophic features with diffuse dystrophin deficiency; immunoblotting demonstrated quantitative reduction of the protein and normal molecular weight. Lyonization study showed skewed X-inactivation with the maternal X active. Seven years' follow-up did not show progression of the disease.
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2/5. Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.

    Charcot-Marie-tooth (CMT) with autosomal recessive (AR) inheritance is a heterogeneous group of inherited motor and sensory neuropathies. Six genes and five additional loci have been identified that are responsible for either demyelinating or axonal forms of the disease. The gene encoding the ganglioside-induced-differentiation-associated protein 1 (GDAP1) has been associated with both demyelinating and axonal phenotypes. We report a detailed clinical, electrophysiological, and genetic study of two siblings from a Moroccan ARCMT family who are compound heterozygotes for the already described S194X and a new R310Q mutation in the GDAP1 gene. The electrophysiological data are compatible with an axonal form of the disease. The phenotype included hoarse voice and paralysis of the diaphragm. This study shows the variability of the phenotype associated with mutations in GDAP1 gene in terms of associated signs and severity.
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3/5. Kallmann's syndrome: skeletal and psychological aspects of late diagnosis.

    We report a case of Kallmann's syndrome (KS) in a previously untreated 30-year-old Caucasian male, admitted to our endocrinology Department, presenting with hypogonadotropic hypogonadism and hypoosmia, and reporting a history of rickets in early childhood and a rapid growth pattern. On admission, his main complaints were back-pain and a decreased tolerance to physical exercise. The patient gave no family history of hypogonadism or hypoosmia, and his case was assumed to be sporadic KS. On physical examination hypogonadism (micropenis, small testes, no puberty), hypoosmia and severe scoliosis, kyphosis and chest malformations were recorded. No facial hair growth was found nor past voice braking. His skeletal proportions were eunuchoidal, no mid-line defects were found. This case of KS was identified unusually late. Due to patient's anxiety that his physical appearance might change due to therapy, he was referred to a clinical psychologist who confirmed the patient's self-perception as a male. The risk of further bone malformations, progression of osteoporosis and consecutive pathological fractures were the main indications for commencing treatment. Psychological support was provided. Six months of treatment with low doses of hCG (500 IU given i.m. twice a week) had elevated his testosterone levels but they still remained below the lower values of the normal reference range for males. Additional treatment with vitamin d and calcium supplementation was continued. A certain improvement of bone density score was observed. The patient noted a marked pain relief and he willingly complied with the treatment. After six months of therapy hCG dose was increased to 2000 IU given twice a week. We conclude that even at such a late diagnosis of Kallmann's syndrome in a male who accepts his physical appearance and does not wish any treatment in this respect, hormonal therapy is necessary and should be introduced to reduce significant risk of osteoporosis and bone fractures, and also to offset slowly progressing skeletal malformations which result from the lack of epiphyseal fusion.
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4/5. Multicentric reticulohistiocytosis presenting with destructive polyarthritis, laryngopharyngeal dysfunction, and a huge reticulohistiocytoma.

    Multicentric reticulohistiocytosis (MRH) is a rare multisystemic disease presenting with skin lesions and erosive polyarthritis and is often associated with malignancy. We describe a 60-year-old woman with diffuse papulonodular skin eruptions and progressive osteolytic bone damage over the bilateral hands, humeral head, and acromioclavicular joints within 2 years. Moreover, dysphagia and a hoarse voice occurred in this patient and an unusual huge mass-reticulohistiocytoma--developed over the left upper back. Tissue biopsy of the skin lesions, laryngeal nodules, and this large mass showed infiltration of numerous CD68( ) histiocytes and multinucleated giant cells with abundant eosinophilic ground-glass cytoplasm. Combination therapy with steroids and methotrexate improved her cutaneous, joint, and laryngopharyngeal symptoms. The large reticulohistiocytoma resolved with methylprednisolone pulse therapy. This polyarthritis, which can be confused with rheumatoid arthritis, can be diagnosed by careful immunohistochemical examination of biopsies. To prevent the irreversible disease process, early and aggressive therapy is necessary.
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5/5. Persistent dysphagia and dysphonia following cervical spine surgery.

    Persistent dysphagia and dysphonia following anterior cervical spine surgery have been underdiagnosed. Understanding the physiologic mechanism resulting in post-surgical dysphagia and dysphonia is essential to providing appropriate treatment. Two cases of protracted dysphagia and dysphonia following left anterior cervical corpectomy were reviewed. Videofluoroscopic evaluation, videostroboscopic assessment and laryngeal nerve-conduction testing were used to determine swallowing, vocal fold and cranial nerve integrity; to assess the ability to achieve oral nutrition; and to direct therapy and surgical procedures to improve swallowing and voice. With a multidisciplinary approach, the physiologic problems of post-surgical dysphagia and dysphonia can be addressed and therapeutic and/or surgical treatments initiated promptly.
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