Calretinin Staining in Anorectal Line Biopsies Accurately Distinguished Hirschsprung Disease in a Retrospective Study.

Introduction: The absence of submucosal ganglion cells does not reliably distinguish Hirschsprung disease from non Hirschsprung disease in anorectal line biopsies. Calretinin staining might be helpful in these biopsies. To determine its value, we analyzed calretinin positive mucosal neurites in anorectal line biopsies.

Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

Phosphatidylinositol 4-kinase IIIα (PI4KIIIα/PI4KA/OMIM:600286) is a lipid kinase generating phosphatidylinositol 4-phosphate (PI4P), a membrane phospholipid with critical roles in the physiology of multiple cell types. PI4KIIIα's role in PI4P generation requires its assembly into a heterotetrameric complex with EFR3, TTC7 and FAM126. Sequence alterations in two of these molecular partners, TTC7 (encoded by TTC7A or TCC7B) and FAM126, have been associated with a heterogeneous group of either neurological (FAM126A) or intestinal and immunological (TTC7A) conditions.

Unusual Thyroid Mass in an Adolescent Patient.

Hurthle cell tumors are rare follicular-derived thyroid neoplasms. Hurthle cell tumors may be benign or malignant. Workup includes imaging, fine needle aspiration, and treatment usually consists of observation versus thyroidectomy.

Congenital intestinal hypoganglionosis: A radiologic mimic of Hirschsprung's disease.

Intestinal hypoganglionosis or isolated hypoganglionosis is a rare entity with a clinical and radiologic presentation that can mimic Hirschsprung's disease in the neonatal period. The diagnosis of this entity can be challenging with suction rectal biopsies that are standard for diagnosing Hirschsprung's disease. We present this case of congenital intestinal hypoganglionosis detailing the neonatal course, due to its rarity and the conundrums faced before an eventual diagnosis could be rendered.

Synchronous Primary Central Nervous System and Pulmonary Lymphoma in a 7-Year-Old Female with Unspecified T-Cell Immunodeficiency.

Primary central nervous system lymphoma (PCNSL) is rare in children with immunocompromise as an important risk factor. A 7-year-old girl with unspecified T-cell immunodeficiency presented with left-sided weakness and was found to have a right-sided frontal lobe mass on imaging. The mass was resected; histopathology and molecular studies evidenced diffuse large B-cell lymphoma.

Malignant glioma with primitive neuroectodermal tumor-like component (MG-PNET): novel microarray findings in a pediatric patient.

Central nervous system (CNS) tumors exhibiting dual features of malignant glioma (MG) and primitive neuroectodermal tumor (PNET) are rare and diagnostically challenging. Previous studies have shown that MG-PNET carry MYCN or MYC gene amplifications within the PNET component concomitant with glioma-associated alterations, most commonly 10q loss, in both components [9]. Here we confirm and extend the profile of molecular genetic findings in a MG-PNET involving the left frontal lobe of a 12-year-old male.

Photoletter to the editor: Subcutaneous ciliated Mullerian cyst.

Cutaneous ciliated cysts are benign lesions occurring primarily on the lower extremity of girls and young women. We present a case of a cutaneous ciliated Mullerian cyst arising in the lower leg of a 14-year-old girl, with brief discussion of etiology and diagnosis. This is a rare entity with approximately 50 cases in the literature.

FOXO1-FGFR1 fusion and amplification in a solid variant of alveolar rhabdomyosarcoma.

Rhabdomyosarcoma is the most common pediatric soft tissue malignancy. Two major subtypes, alveolar rhabdomyosarcoma and embryonal rhabdomyosarcoma, constitute 20 and 60% of all cases, respectively. Approximately 80% of alveolar rhabdomyosarcoma carry two signature chromosomal translocations, t(2;13)(q35;q14) resulting in PAX3-FOXO1 fusion, and t(1;13)(p36;q14) resulting in PAX7-FOXO1 fusion.