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. Her brother was born 1 1/2 years later to the same parents. He was also born at 32-week gestation and lived 40 min. At birth, both individuals were noted to have marked edema of the entire body, slightly low set ears, small nose, mild micrognathia, small chest, camptodactyly, single transverse palmar creases, rhizomelic shortening of the upper extremities, slight ankle varus deformity bilaterally and bilateral humeral fractures. Postnatal chromosomal analysis of the first patient was normal. In both cases, evaluation for lysosomal storage disorders utilizing skin fibroblasts was negative. The radiographs and autopsies were done on both patients and showed diffuse soft-tissue edema, gracile bones, especially in the upper extremities and ribs, and bilateral humeral fractures in both children. Both patients had absence of germ cells. The skeletal system in both appeared otherwise normal. After testing for infectious, chromosomal, hematological, hepatic and metabolic causes, we were unable to identify the etiology of the condition in the above patients. Further, we have been unable to identify a reported genetic condition with the features present in these cases. As such, we believe that the disorder in the individuals reported here represent a new autosomal recessive condition.

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. PATIENT: Seven-month-old female infant with profound hypoxemia and pulmonary hypertension. CONCLUSION: Alveolar capillary dysplasia should be considered with a high index of suspicion in an infant who presents with pulmonary hypertension beyond the neonatal period and for which no anatomical cause can be found. Early consideration of open lung biopsy may prevent using costly, invasive, and probably ineffective procedures such as extracorporeal membrane oxygenation.

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. The 2 specimens were compared with each other. RESULTS: One hundred fifty-two children 1 to 17 years of age were included. Fifty-three were female. Subjects were grouped into 4 age categories: 1 to 3 years (group A), 4 to 6 years (group B), 7 to 9 years (group C), and > or =10 years (group D). Similar numbers of patients were recruited for each group. Ganglion cells were identified in 73% and 90% by the suction and grasp devices, respectively, in group A. In groups B through D, ganglion cells were identified in 50% to 53% vs 92% to 97% of the suction and grasp biopsies, respectively (P < 0.001). Submucosa was present in 88% (suction) vs 98% (grasp) in group A, 70% vs 95% in group B, 69% vs 94% in group C, and 45% vs 92% in group D. CONCLUSION: The suction rectal biopsy is less likely to provide adequate submucosa for identification of ganglion cells after 3 years of age.

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. There was no evidence of disease progress or recurrence at 2-year and 10-year follow-up for these 2 patients. The authors also noticed that erroneous assumptions or diagnoses may lead to unnecessary overtreatment, including orchiectomy. In the meantime, frozen section is highly recommended, and a presumptive diagnosis of neuroblastoma from frozen section is usually possible, especially when incorporated with other clinical and lab parameters, and should be attempted. The prognosis typically is favorable. In conclusion, it is becoming clear that primary neuroblastoma is an important differential diagnostic consideration for a paratesticular mass, particularly in the early pediatric age group.

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. Recommendations for toxoplasmosis diagnosis, treatment, and prophylaxis in stem cell transplant recipients are reviewed.

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. From the description of the cases reported on here and those in the literature, we propose that the overlap of features found among LBWC, EC, and URSMS represent a continuous spectrum of abnormalities, rather than three separate conditions. As such, we suggest that all three conditions may share a common etiology or pathogenetic mechanism.

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. Atomoxetine may cause clinically significant hepatotoxicity either by metabolic idiosyncrasy or by inducing autoimmune hepatitis.

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. Eosinophilic esophagitis was grouped according to the number of eosinophils per high power field (non-allergic, <15 eosinophils/high power field; allergic, > or =15 eosinophils/high power field). RESULTS: Of 1041 endoscopies performed during the study period, 153 revealed evidence of eosinophilic esophagitis. Of these 153, 61 had fewer than 15 eosinophils/high power field and 92 had 15 or more eosinophils/high power field. At 31 of the 153 procedures, white specks were noted in the esophageal mucosa. The sensitivity of white specks in the esophageal mucosa for allergic eosinophilic esophagitis was only 30%, but the specificity was 95%. pH probe testing was performed in 21 patients with white specks and was normal in all. CONCLUSIONS: This report describes a new endoscopic finding associated with allergic eosinophilic esophagitis in children. Eosinophilic esophagitis tends to be severe when white specks are present (> or =15 eosinophils/high power field) and is not associated with pathologic gastroesophageal reflux, as demonstrated by pH probe testing.