Familial childhood monosomy 7 and associated myelodysplasia.

SUMMARY: Familial monosomy 7 is defined as bone marrow monosomy 7 occurring as a sole cytogenetic abnormality affecting 2 or more siblings. It manifests usually in childhood with neurologic disorder (cerebellar ataxia or atrophy) and/or hematologic disorder (marrow hypoplasia, myelodysplasia, acute myeloid leukemia, or pancytopenia). Partial or complete monosomy 7 with hematologic disorder has been reported in 13 families/pedigrees to date. Here we report the 14th family.

Primary pancreatic sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): an unusual extranodal manifestation clinically simulating malignancy.

Abstract Sinus histiocytosis with massive lymphadenopathy (SHML), also called Rosai-Dorfman disease, is a rare entity. Its etiology and pathogenesis are still essentially unclear. The histologic hallmark of this disease is proliferation of distinctive histiocytes within lymph node sinuses and in extranodal sites. Approximately 23% of patients with SHML, documented in the SHML Registry, presented with disease primarily in extranodal sites, and very few cases of SHML (<1%) involving the gastrointestinal system have been described in the literature. We report an unusual case of primary pancreatic SHML with infiltration of the process into peripancreatic, perinephric, and perisplenic adipose tissue, simulating malignancy.

Disseminated subcutaneous nocardiosis caused by Nocardia farcinica diagnosed by FNA biopsy and 16S ribosomal gene sequencing.

Nocardia is an infrequent but significant cause of infections in the immunocompromised host. Clinical syndromes are varied and ranges from pulmonary, disseminated, cutaneous, and CNS involvement. Here we describe a case of disseminated subcutaneous nodules in a patient with multiple myeloma caused by Nocardia farcinica. The diagnosis was made by FNA biopsy which revealed gram positive filamentous bacilli in background of acute inflammation on smears. This was confirmed by 16S ribosomal gene sequencing. Prompt identification of N. farcinica is important because of its intrinsic resistance to broad spectrum cephalosporins and high risk of dissemination.

Lobular capillary hemangioma of the neonatal larynx.

OBJECTIVE: To describe a previously unreported condition of the neonatal larynx. DESIGN: Case series of 4 neonates with an uncommon laryngeal lesion. SETTING: Tertiary care children's hospital. PATIENTS: Four neonates in the first 10 days of life with stridor, hoarseness, and respiratory distress. INTERVENTION: The patients were examined using flexible fiberoptic laryngoscopy, and laryngeal lesions were identified and subsequently removed using microlaryngoscopy. Photodocumentation of the lesions was performed. Microscopic evaluation of biopsy specimens by a pathologist followed. MAIN OUTCOME MEASURES: Each patient's medical record was carefully reviewed for prenatal history, birth history, neonatal history, pathologic findings, and office follow-up. RESULTS: All 4 neonates were delivered atraumatically and developed symptoms of upper airway obstruction within the first few minutes to days of life. Each neonate was found to have an obstructive laryngeal lesion requiring surgical intervention. No child had other congenital abnormalities or a history of obvious laryngeal trauma. Pathologic review of each laryngeal specimen revealed inflammatory lesions with characteristic features of a lobular capillary hemangioma (or a pyogenic granuloma). CONCLUSIONS: The diagnosis of a lobular capillary hemangioma of the larynx should be considered in the differential diagnosis of a newborn with stridor, hoarseness, or respiratory distress. The cases seem to be of congenital origin, although acquired pathogenesis cannot be ruled out. Treatment of these lesions includes microscopic surgical excision.