Congenital lower lip pits (van der Woude syndrome): what pathologists need to know.

Congenital lower lip pits are cardinal findings of van der Woude syndrome [OMIM 119300]. The nosologic context of how lower lip pits are catalogued is easily lost because of insufficient clinical history, subtle findings misidentified as artifacts, lack of awareness by the pathologist, the perception that these are identify/confirm descriptive-diagnosis only, not necessarily an element of an actionable report, and/or the rarity with which these specimens are accessioned (in the authors' experience, less than 1 case per year). We present the salient findings on 19 lower lip pits specimens from the files of a single institution collected over the last 25 years.

Hepatogonadal fusion.

An unusual spermatic cord-like structure was observed connecting the liver and right testis in a 3-month-old boy who was undergoing right inguinal hernia repair. The hepatic tissue was present along the entire length of this structure.

Primary paratesticular neuroblastoma: practical considerations.

Primary neuroblastoma in the paratesticular region is exceedingly rare with only 4 cases reported in the medical literature. The authors report 2 additional cases of primary paratesticular neuroblastoma, both in 6-month old boys who were asymptomatic at presentation. Both cases were stage I diseases, as they typically are in this early pediatric age group.

Profound hypoxemia and pulmonary hypertension in a 7-month-old infant: late presentation of alveolar capillary dysplasia.

Objective: To report a case of an oldest previously asymptomatic infant diagnosed with alveolar capillary dysplasia who lived a relatively normal life until 7 months of age.

Design: Descriptive case report.

Setting: Intensive care unit of a tertiary care children's hospital.

Recurrent non-immune hydrops fetalis with gracile bones and dysmorphic features in siblings.

We report on two siblings with recurrent non-immune hydrops fetalis of unknown etiology. The proposita was born at 32-week gestation with hydrops fetalis. She died at less than 1 hr of age despite resuscitative efforts.

On the spectrum of limb-body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence.

The limb-body wall complex (LBWC) is characterized by abdominal wall and limb defects, exstrophy of the cloaca (EC) by lack of closure of the lower abdominal wall and lack of cloacal septation, and the urorectal septum malformation sequence (URSMS) by absent perineal and anal openings, ambiguous genitalia, colonic, and renal anomalies. We report here on three fetuses whom have overlapping features of these disorders. Also we have reviewed the literature for cases with overlapping features of two or three of the above conditions.

At what age is a suction rectal biopsy less likely to provide adequate tissue for identification of ganglion cells?

Objective: The objective of this study was to determine at what age suction rectal biopsy is less likely to provide adequate tissue to detect submucosal ganglion cells in a child being evaluated for Hirschsprung disease.

Patients And Methods: Children > or =1 year of age undergoing a rectal biopsy at a single children's hospital had 1 biopsy each obtained simultaneously with a suction biopsy device and a grasp biopsy forceps. The biopsies were examined by 2 pathologists for adequacy of the submucosa (none, scant, adequate, or ample) and the presence of ganglion cells.

Severe liver injury after initiating therapy with atomoxetine in two children.

Two children presented with acute hepatitis after starting therapy with atomoxetine (Strattera). In one child, no competing diagnosis could be identified, and liver injury resolved completely on withdrawal of the medication. In the second child, the evaluation was suggestive of type 1 autoimmune hepatitis; she subsequently improved with removal of atomoxetine and concomitant immunosuppressive therapy.

Disseminated toxoplasmosis resulting in graft failure in a cord blood stem cell transplant recipient.

Toxoplasmosis is an infrequent infection with a high mortality rate in hematopoietic stem cell transplant recipients, and is usually caused by reactivation of prior, latent infection upon intensive immunosuppression. We report a case of fatal disseminated toxoplasmosis, diagnosed at autopsy, in a 7-year-old boy who received a cord blood graft for recurrent acute lymphoblastic leukemia. This case represents both the first reported case of toxoplasmosis in an engrafted cord blood recipient, and also of graft failure due to toxoplasmosis.

White specks in the esophageal mucosa: An endoscopic manifestation of non-reflux eosinophilic esophagitis in children.

Background: White specks in the esophageal mucosa have been observed in children with eosinophilic esophagitis. The aim of this study was to determine the relationship between white specks in the esophageal mucosa and allergic (non-reflux) eosinophilic esophagitis.

Methods: Endoscopic data, pH probe results, and histopathology reports for children with esophageal endoscopic abnormalities seen during a 17-month period were reviewed.