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.

A 2-year-old boy with hemolytic uremic syndrome and pneumocephalus.

Clostridium septicum infection following hemolytic uremic syndrome is rare and carries a poor prognosis, especially when the brain is involved. We report a case of a previously healthy 2-year-old boy who presented with two days of anuria and bloody diarrhea. He was admitted to the local children's hospital with a diagnosis of hemolytic uremic syndrome, presumably secondary to E.

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.

Rituximab for the treatment of thymoma-associated and de novo myasthenia gravis: 3 cases and review.

Objectives: Myasthenia gravis (MG) is an immune-mediated disorder associated with autoantibodies against postsynaptic nicotinic acetylcholine receptors at neuromuscular junctions. Rituximab, a monoclonal antibody specific for CD20, is used primarily to treat B-cell non-Hodgkin lymphoma. Although it has been used for treatment of a number of autoimmune diseases, there is limited experience in MG.

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.

Ureteropelvic junction obstruction due to inflammatory pseudotumor masquerading as hydronephrosis because of a neuropathic bladder in a child with myelomeningocele.

Inflammatory pseudotumors (IPTs), also known as inflammatory myofibroblastic tumors, are rare solid lesions, generally thought to be benign, which have been described in a variety of locations. We report a case of a child with a neuropathic bladder who developed a pseudotumor of the retroperitoneum that caused progressive ureteral obstruction distal to the ureteropelvic junction. Hydronephrosis as a complication of IPTs has been described with bladder and uterine IPTs; however, in our review of published reports, we found no reported cases of a retroperitoneal IPT causing proximal ureteral obstruction in a pediatric patient.

Experience with juvenile polyps in North American children: the need for pancolonoscopy.

We report a recent experience with juvenile polyps (JP) in a large cohort of North American children to determine if a pancolonoscopy (PC) is needed in all children with suspected polyps. We reviewed hospital charts of all patients with JP seen over a 9-yr period (January, 1990-October, 1998). A total of 331 JP were encountered during 195 procedures in 184 patients (64% males, 88% white, mean age 5.

Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity.

Byler disease (ByD) is an autosomal recessive disorder in which cholestasis of onset in infancy leads to hepatic fibrosis and death. Children who have a clinically similar disorder, but are not members of the Amish kindred in which ByD was described, are said to have Byler syndrome (ByS). Controversy exists as to whether ByD and ByS (subtypes of progressive familial intrahepatic cholestasis [PFIC]) represent one clinicopathological entity.

Peritracheal fibrosis induced by sclerosing agents: a putative treatment for tracheomalacia.

Tracheomalacia is a congenital or acquired deficiency of the cartilages of the trachea. Treatment procedures include formation of external support by insertion of cartilage; bone for foreign material into the peritracheal tissue. A sclerosing agent, sodium morrhuate, was injected in the peritracheal tissue, blindly or after skin incision and subcutaneous tissue.

Transjugular intrahepatic portosystemic shunting (TIPS) for treatment of severe hepatic veno-occlusive disease.

Severe veno-occlusive disease (VOD) of the liver is a frequent cause of morbidity and mortality in patients undergoing transplantation. While surgical portosystemic shunts have been reported to be useful in the treatment of severe hepatic VOD with intractable ascites, few of these patients are surgical candidates. We report a case of severe VOD after autologous peripheral blood progenitor cell transplantation treated with transjugular intrahepatic portosystemic shunting (TIPS).

Visual presentation of the staging of pediatric solid tumors.

Staging systems are used in staging most pediatric solid tumors outside the central nervous system. Common solid, nonneurologic pediatric tumors include liver tumors, Hodgkin disease, non-Hodgkin lymphoma, Wilms tumor, rhabdomyosarcoma, neuroblastoma, Ewing sarcoma, and osteosarcoma. Traditional staging of pediatric tumors depends on the anatomic distribution of the malignant disease.