Ehlers-Danlos syndrome coexisting with juvenile nephronophtisis.

Ehlers-Danlos syndrome (EDS), a heterogeneous disease of the connective tissues, is diagnosed by a triad of symptoms that include skin hyperextensibility, joint hypermobility and connective tissue fragility. Nephronophtisis (NPH) is an autosomal recessive interstitial nephritis leading to terminal renal insufficiency around puberty. The occurrence of these two rare diseases together is unusual. A review of the literature discloses no case of this association. We report here on a 16-year-old man with undiagnosed EDS, who was referred to our hospital because of renal insufficiency, history of polyuria and polydipsia. Renal ultrasound showed normal kidney size, with a lack of corticomedullary differentiation. Renal biopsy specimen disclosed chronic tubulointerstitial nephritis resembling NPH. Further evaluation identified hypermobile joints and hyperextensible skin, which led to the diagnosis of the EDS. These data suggest that patients with EDS need to be evaluated carefully for the presence of renal anomalies.

Nephrotic syndrome revealing a disseminated Langerhans' cell histiocytosis.

Langerhans' cell histiocytosis (LCH) is a clonal disorder of proliferating histiocytes, which can affect various organs. The clinical picture ranges from localized to disseminated disease with multiple organ involvement and severe organ dysfunction. Renal involvement is uncommon and the association with glomerulonephritis is unusual. We report here a case of nephrotic syndrome caused by membranoproliferative glomerulonephritis (MPGN) in a 20-year-old woman, which revealed a disseminated form of LCH. Surgical removal of the LCH process and high doses of corticosteroids led to the remission of the basic disease and the renal involvement. The occurence of membranoproliferative glomerulonephritis in the course of LCH might be mediated by circulating immune complexes, composed at least in part of antigens or neoantigenes which may cause the abnormal proliferation of the Langerhans' cells.

[Myeloid sarcoma of the brain. A case report]. / Sarcome myéloïde cérébral préleucémique. A propos d'un cas.

We report a case of myeloid sarcoma of the brain mimicking a meningioma on CT scan. The lesion was first morphologically misdiagnosed as a lymphoma, but correctly identified by using immunochemistry with anti-myeloperoxidase, anti-CD68, anti-CD15 antibodies. An acute myeloid leukemia was diagnosed 5 months later. Myeloid sarcoma is frequently mistaken for malignant lymphoma, especially when it presents without leukemic manifestation, even at immunohistochemistry, since both express some leukocyte antigens. Careful evaluation of morphology for evidence of myeloid differentiation, and immunohistochemistry using anti-myeloperoxidase, anti-lysozyme, CD15, CD68 antibodies, should be used to confirm the diagnosis and to rule out lymphoma since the treatment is different.