[Diagnostic workup in front of an atypical non hemolytic anemia]. / Démarche diagnostique devant une anémie « non hémolytique ¼ sans étiologie apparente.

The most potential causes of "non hemolytic" anemias are iron, folate or vitamin B12 deficiencies, severe renal impairment, endocrine diseases, inflammation and medullary disorders. In a non-exceptionnal way no cause is found, sometimes because of a wrong interpretation of analysis results and sometimes because of a little known etiology. The goal of this review is to point out analytical difficulties and to remember some rarer etiologies.

[Cutaneous lesions during hot-tub hypersensitivity pneumonitis: Pseudomonas folliculitis ?] / Lésions cutanées au cours d'une pneumopathie d'hypersensibilité aux bains bouillonnants : folliculites à Pseudomonas ?

BACKGROUND: Interstitial lung disease, cutaneous rash and elevated serum angiotensin converting enzyme (ACE) may suggest diagnoses other than sarcoidosis. PATIENTS AND METHODS: A 58-year-old man had presented dyspnoea for 2 years with increased angiotensin-converting enzyme, as well as an interstitial syndrome and micronodules. The possibility of sarcoidosis was raised. Systemic corticosteroids resulted in improvement of the dyspnoea although it recurred on dose reduction. We noted fluctuating eczematous macules of the limbs with a histology of aspecific folliculitis. The identification of Mycobacterium avium complex (MAC) in the bronchoalveolar wash prompted us to initiate antimycobacterial therapy, but this was to no avail. Review of the CT-scan and questioning of the patient (daily use of a Jacuzzi for 7 years) resulted in diagnosis of hypersensitivity pneumonitis due to MAC. The cutaneous lesions were taken to indicate "hot tub folliculitis". Discontinuation of hot-tub use and a short course of oral corticosteroids resulted in healing within 4 months, with no recurrence at 2 years. DISCUSSION: HTL is a form of hypersensitivity pneumonitis due to the presence of MAC in the water of Jacuzzis. This condition regresses spontaneously without treatment on discontinuation of Jacuzzi use. Hot-tub folliculitis due to Pseudomonas aeruginosa (PA) presents as macules and papules on covered skin areas (swimsuit) within 48hours of bathing and often declines within 2 weeks. CONCLUSION: Our case is original as regards the concomitant lung and cutaneous involvement associated with Jacuzzi use, with an immunoallergic mechanism for the MAC and probably an infectious mechanism for the PA.

[Analysis of 12 cases of McArdle's disease diagnosed after 30 years]. / Maladie de MacArdle diagnostiquée après 30 ans : à propos de 12 cas.

PURPOSE: McArdle's disease (MAD) or glycogen storage disease type V, usually starts in childhood or adolescence. Generally diagnosis is made before the early adulthood because patients present well defined syndrome and are constrained. METHOD: We retrospectively investigated all MAD cases diagnosed in the biochemical laboratory from Debrousse Hospital in Lyon, during 40 years (1962-2002). We then selected patients whose diagnosis had been made after 30 years. RESULTS: Fifteen patients answered our criteria but only 11 files could be analysed. A twelfth patient (service of internal medicine--Royan) supplemented the series. We sought the reasons of a late diagnosis: early age of beginning but few symptoms (7 cases), age of beginning higher than 20 years (5 cases including 3 after 45 years). The principal symptoms were muscular deficit and muscular pains (8 cases) and second wind phenomenon (7 cases). Creatinine phosphokinase level was constantly high. Ischemic effort test when it was carried out was constantly abnormal. Conversely electromyogram was often normal (5 cases). Several biopsies were necessary in a third of the cases to evoke the diagnosis, particularly among the patients with late onset symptoms. CONCLUSION: Diagnosis of metabolic MAD is generally easy if the interrogation finds inaugural symptoms in childhood or adolescence even if the patient consults very late in the life. The diagnosis can become much more difficult if it begins late in life (atypical symptoms, need for several muscular biopsy).

[Oculopharyngeal myopathies: value of myotomy of the superior sphincter of the esophagus. Apropos of a case]. / Myopathies oculopharyngées: intérêt de la myotomie du sphincter supérieur de l'oesophage. A propos d'un cas.

Since 3 years, a 74 year-old man suffered of swallowing impairment, weight loss, bilateral ptosis and proximal muscular weakness. Electron microscopy disclosed intranuclear tubular filaments and confirmed the diagnosis of oculopharyngeal muscular dystrophy. Upper oesophageal sphincter myotomy was performed with complete improvement. Four months after surgery, swallowing disorders were not recurrent and weight gain was substantial.

[Leiomyosarcoma of inferior vena cava. A new case. Surgical management (author's transl)]. / Les léiomyosarcopes de la veine cave inférieure. A propos d'un cas ayant bénéficié d'une exérèse chirurgicale.

The authors report on a new case of leiomyosarcoma of the inferior vena cava, to add to the sixty five cases already mentioned in the literature. The patient had been suffering from subcostal pains for 12 years, and an adenomyoma of the gall bladder was diagnosed. The tumor was discovered in the course of a cholecystectomy. The vena cava was resected and ligated below the renal veins. After describing the case, the authors go on to review the literature and stress the fact that the prognosis, which is often severe, could be improved by earlier diagnosis.

[21-hydroxylase deficit revealed by hyperkalemia in the absence of renal failure in an insulin-dependent diabetic (author's transl)]. / Déficit en 21 hydroxylase révélé par une hyperkaliémie sans insuffisance rénale chez une diabétique insulino-dépendante.

The authors report a case of severe hyperkalemia (7 mmol/l) in an insulin-dependent diabetic in the absence of renal failure. This hyperkalemia was due to hypoaldosteronism caused by inadequate hormone biosynthesis in the absence of 21-hydroxylase. Replacement therapy allowed normalization of clinical and laboratory parameters. The various causes of hyperkalemia in the absence of renal failure in insulin-dependent diabetes are discussed, notably the renin deficiency hypoaldosteronism syndrome. This case study is remarkable for a number of reasons, including the very limited degree of virilization, the occurrence of a pregnancy, and the degree of salt excretion. This is a new observation in the diabetic, and is apparently a coincidental association since deficits in 21-hydroxylase are not usually associated with insulin-dependent diabetes.

[Leiomyosarcoma of the inferior vena cava (author's transl)]. / Léiomyosarcome de la veine cave inférieure.

A further case of leiomyosarcoma of the inferior vena cava is described, bringing the total number reported in the published literature to 63. The tumor was located in the inter-renal segment of the vena cava, and was effectively removed by excision combined with venous reconstruction, enabling conservation of the renal veins. These malignant tumors occur more frequently in women, and their symptomatology varies according to their location in either the upper, middle or lower area of the inferior vena cava. Upper segment tumors are revealed by a Budd-Chiari syndrome or obstruction of the right atrium and are usually rapidly fatal. Middle and lower segment tumors can be treated surgically, if diagnosis is made early enough and cavography is conducted.