Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2.

Griscelli syndrome type 2 (GS2) is a rare autosomal-recessive disorder associated with a RAB27A gene mutation, and clinically manifesting as hypopigmentation, disseminated chronic encephalitis, and severe immunological disorders characterized by an accelerated hematological phase, also referred to as hemophagocytic syndrome (HS), or hemophagocytic lymphohistiocytosis (HLH). The authors report the diagnosis of GS2 in an 11-year-old girl with hypopigmentation, immunodeficiency, hepatosplenomegaly, severe neurological impairments, and fatal multiorgan failure. In this patient a diagnosis of pulmonary lymphomatoid granulomatosis (LG), an Epstein-Barr virus (EBV)-related lymphoproliferative disorder, was established from radiological and histological findings. Although EBV-related malignancies are common in immunocompromised patients, this is the first report of a diagnosis of pulmonary LG in a patient with GS2.

Orbital tumor as an initial manifestation of Wegener's granulomatosis in children: a series of four cases.

BACKGROUND: Wegener's granulomatosis (WG) is a rare idiopathic disease in which small and medium-sized arteries are affected by necrotizing granulomatous inflammation. It is associated with a triad of pulmonary (cavitating granulomatous lesions with hemoptysis, cough, and dyspnea), renal (glomerulonephritis with hematuria, proteinuria), and head (otitis media, recurrent sinusitis, eye or orbital involvement) manifestations. CASE REPORT: Four children aged 7-11 years diagnosed with WG between 1995-2008 initially presented with unilateral proptosis and ptosis due to orbital tumor. CT or MRI, orbital lesion biopsy, and laboratory tests (ERS, CRP, ANCA) were part of the diagnostic workup. The diagnoses were based on correlation between clinical presentation and diagnostic findings. All four patients had orbital lesions on contrast-enhanced CT and MRI. Two had lesions of the temporal pyramid. Orbital tumor biopsies showed granulomatous lesions in two patients, necrotizing vasculitis with leukocytoclasia in three, and an orbital pseudotumor in one. ESR and CRP were positive in all. ANCA positivity was variable (c-ANCA did not allow WG diagnosis or there were atypical ANCAs). All had blood and protein in the urine, but only one had advanced renal involvement. All were treated with oral steroid and immunosuppression; remission was successful. CONCLUSIONS: WG is often more difficult to diagnose in children than in adults due to frequent absence of its signature features. The absence of the classic triad and atypical laboratory or biopsy findings do not exclude a diagnosis of WG. Orbital demonstration helps achieve early diagnosis and treatment of this potentially fatal rheumatologic disease.

[Primary carcinoma of the thyroid growing in thyroglossal duct cyst: presentation of two cases]. / Pierwotny rak tarczycy w obrebie torbieli przewodu tarczowo-jezykowego: opis dwóch przypadków.

Thyroglossal duct remnants (TGDR), most often cysts, are the most common type of developmental abnormalities of the thyroid gland. In about 1 to 2% of TGDR neoplastic transformation occurs. Papillary carcinoma of the thyroid may be encountered in over 90% of such cases. Two cases of primary papillary carcinoma of the thyroid in TGDR in young girls are presented. The diagnostic and therapeutic problems are shared, and up-to-date management guidelines in similar cases are discussed.