Ectopic pancreas, intussusception, and a ruptured mesenteric band: an unusual association

Although ectopic pancreas and intussusception are not unusual conditions, intussusception caused by ectopic pancreas is extremely rare. Its presence along with a ruptured congenital mesenteric vascular band raises the possibility of an anomaly of the vitelline vascular system. We report the case of a 26-year-old man presenting with acute abdominal pain, vomiting, and diarrhea. CT scan showed a large amount of free fluid in his abdomen and an ileo-ileal intussusception. At laparotomy he was found to have hemoperitoneum with a ruptured, actively bleeding congenital band attached to the ileal mesentery, which was ligated, with ileo-ileal intussusception that was resected. Histopathology showed ectopic pancreatic tissue as the lead point for the intussusception. It was likely to be a ruptured mesodiverticular band and along with other findings suggested a constellation of anomalies of the vitello-intestinal tract.     

Triophthalmia and facial clefting: a case report.

We describe a Libyan boy with an unusual phenotype of multiple congenital anomalies, including triophthalmia, dolichocephaly, porencephaly, cleft lip/palate, facial asymmetry, micrognathia, and VSD. The reported phenotype is likely to represent a new entity of non-chromosomal syndromic triophthalmia. Other possibilities are discussed.     

Kallmann syndrome in three unrelated women and an association with femur-fibula-ulna dysostosis in one case

We describe three unrelated women with hypogonadotropic hypogonadism and anosmia; that is, Kallmann syndrome. Absence of olfactory bulbs and tracts and different degrees of asymmetric dysplasia of olfactory sulci were demonstrated by MRI. Both the father of Case 1 and the maternal aunt of Case 3 had anosmia, thus autosomal dominant inheritance seems to be likely. Patient 2 had Kallmann syndrome and FFU (femurfibula-ulna) dysostosis as a sporadic occurrence in her family.     

Oculo-Auriculo-Vertebral complex and uncommon associated anomalies: Report on 8 unrelated Brazilian patients

We report on 8 Brazilian patients with the oculo-auriculo-vertebral (OAV) complex with associated uncommon anomalies of hydrocephalus, porencephalic cyst, hand abnormalities, terminal/paraxial hemimelia, Klippel-Feil anomaly, Rokitansky sequence, fibrous dysplasia, and dextrocardia. Our patients show that in some instances a definite diagnosis can be difficult within the wide clinical picture of the OAV complex. © 1992 Wiley-Liss, Inc.     

Microfilaria in malignant pleural effusion: an unusual association

Lymphatic filariasis is common in tropical countries and is endemic in India. Filariasis presenting with pleural effusion is an unusual presentation. Malignancy in association of filarial pleural effusion is extremely rare. We report a case of a 60-year-old female who presented with chest pain, loss of weight and breathlessness for a few months. Pleural fluid examination revealed malignant cells, along with microfilaria of Wuchereria bancrofti.     

Unknown syndrome: microcephaly, facial clefting, and preaxial polydactyly.

We present a four year old boy with short stature, disproportionate microcephaly, developmental delay, convulsions, bilateral cleft lip and palate, and bifid right thumb.     

Oculo-auriculo-vertebral complex and uncommon associated anomalies: report on 8 unrelated Brazilian patients.

We report on 8 Brazilian patients with the oculo-auriculo-vertebral (OAV) complex with associated uncommon anomalies of hydrocephalus, porencephalic cyst, hand abnormalities, terminal/paraxial hemimelia, Klippel-Feil anomaly, Rokitansky sequence, fibrous dysplasia, and dextrocardia. Our patients show that in some instances a definite diagnosis can be difficult within the wide clinical picture of the OAV complex.     

Kallmann syndrome in three unrelated women and an association with femur‐fibula‐ulna dysostosis in one case

We describe three unrelated women with hypogonadotropic hypogonadism and anosmia; that is, Kallmann syndrome. Absence of olfactory bulbs and tracts and different degrees of asymmetric dysplasia of olfactory sulci were demonstrated by MRI. Both the father of Case 1 and the maternal aunt of Case 3 had anosmia, thus autosomal dominant inheritance seems to be likely. Patient 2 had Kallmann syndrome and FFU (femur‐fibula‐ulna) dysostosis as a sporadic occurrence in her family. Am. J. Med. Genet. 93:176–180, 2000. © 2000 Wiley‐Liss, Inc.     

Epilepsy and clefting disorders: lack of evidence of a familial association

Offspring of women with epilepsy who are taking anticonvulsant medications have an increased incidence of clefting abnormalities. However, there is disagreement as to the extent to which this increase is due to a teratogenic effect of anticonvulsant medications or to a familial association of epilepsy and clefting. Some investigators suggested, but were unable to demonstrate adequately, that clefting and epilepsy associate together in families. In order to address this issue, individuals with a clefting disorder and their relatives were ascertained to determine whether clefting and epilepsy aggregate together in families. The incidence of epilepsy was not increased over that in the general population with a standardized morbidity ratio (SMR) for epilepsy of 0.9 (95% CI 0.2-2.6) for first-degree relatives (excluding parents) and 0.0 for second-degree relatives. The SMRs ranged from 0.7-2.2 for the individual relative types (parents 1.5, sibs 0.7, children 2.2) and were also not increased. These results do not support suggestions that clefting and epilepsy segregate together in families.     

Lymphocytic venulitis: an unusual association with microscopic colitis.

A 79 year old man presented with occult gastrointestinal bleeds and anaemia for two years. He had received 40 units of blood over a period of one year, following which he had a subtotal colectomy as no definite cause of the bleeding was apparent. Macroscopically the colon appeared unremarkable. Light microscopy showed prominent lymphocytic venulitis in the proximal portion, gradually merging into lymphocytic and collagenous colitis distally.     

Teratogenicity of anticonvulsant drugs. IV: The association of clefting and epilepsy

Cleft lip with or without cleft palate (CL/P) is the most common congenital malformation reported among infants of epileptic mothers. This study sought to examine the relative roles of anticonvulsant teratogenicity and other factors responsible for this association. Among 175 families with a proband with isolated CL/P, there were 13 parents with epilepsy and a high frequency of other family members with CL/P and epilepsy. Evaluation of the 13 cases suggested that teratogenicity of anticonvulsant drugs was not the primary factor responsible for the observed association of maternal epilepsy and clefting. Among 140 families with a proband with clefting other than CL/P, there were no instances of parental epilepsy observed.     

Collagenous gastritis: an unusual association with profound weight loss

Collagenous gastritis is a distinctive disorder characterized by thickening of the subepithelial collagen layer in the gastric mucosa. Although this entity was recognized in 1989, its etiology, pathogenesis, and clinicopathologic features remain poorly understood because of its rarity. An unusual case of collagenous gastritis was observed in a 37-year-old man who presented with profound weight loss, a feature that has not previously been emphasized.     

Peutz-Jegher's syndrome with ovarian serous cystadenoma: an unusual association

A 29 year female presented with epigastric pain with bilious vomiting since 1 1/2 years. This patient was diagnosed as a case of Peutz-Jegher's syndrome based on evidence of the characteristic mucocutaneous pigmentation which was present since birth and intestinal hamartomatous polyposis. There was an associated unilateral ovarian cystadenoma which is a rare association and which highlights the importance of a gynaecologic examination in female patients with Peutz-Jegher's syndrome.     

Blue rubber bleb nevus syndrome and pulmonary hypertension: an unusual association

INTRODUCTION: Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital systemic angiodysplasia with multiple vascular malformations in the skin, gastrointestinal tract and, less often, in other internal organs and the brain. CASE REPORT: A 36-year-old man with past history of BRBNS was admitted to our hospital for progressive dyspnea and fatigue. Primary pulmonary hypertension (PPH) was diagnosed. He then developed acute abdominal pain and dyspnea, dying in a few hours due to sudden cardiac arrest. Postmortem examination demonstrated angiomatous lesions located in the skin, small bowel, heart, lungs, liver and thyroid. The lesions were slightly raised, soft and compressible and microscopically consisted of dilated vascular channels lined by a flattened endothelium. The vascular wall was formed by several layers of smooth muscle cells, intermixed with abundant aggregates of elastic lamellae and thin collagen fibers. Luminal thrombi were a frequent finding. In the small bowel, we identified the presence of an abnormally large artery directly opening into a thin-walled venous channel. The most striking finding in the lungs was the presence of thrombi of varying age in the lumen of segmental and elastic arteries, as well as muscular arteries and arterioles. Severe medial hypertrophy of muscular arteries and muscolarization of arterioles were also present. Intimal proliferative lesions and plexiform lesions were never observed. CONCLUSION: The pulmonary findings are consistent with recurrent thromboembolic events from shunts in the visceral lesions. To our knowledge, this is the first report of BRBNS with visceral arterovenous (AV) fistulae complicated by thromboembolic pulmonary hypertension (PH).     

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients

We report molecular cytogenetic characterization of ring chromosome 15 in three unrelated male patients with the karyotype 46,XY,r(15). One was a stillborn child with several malformations, and the other two cases showed pre- and postnatal growth retardation and developmental delay, common features for ring chromosome 15 syndrome. One of these patients also displayed clinical features resembling Prader-Willi syndrome (PWS). To delineate the extent of the deletion on chromosome 15, we have carried out fluorescence in situ hybridization (FISH) using bacterial artificial chromosomes (BACs) mapping to the distal long arm of chromosome 15. The deletion breakpoints clustered within a 4.5-6.5 Mb region proximal to the 15q telomere. Two deletions involved the same known genes, while the largest deletion observed in the stillborn child involved three additional genes, including the COUP-TFII gene, which has been suggested to play a role in heart development. The heart malformations, which are observed in this patient, are thus likely to be due to hemizygosity/haploinsufficiency of the COUP-TFII gene. In all three patients, the insulin-like growth factor I receptor gene (IGF1R) gene was deleted supporting the association between IGF1R and growth retardation seen in ring chromosome 15 syndrome.     

Delayed hemolytic transfusion reaction and paroxysmal cold hemoglobinuria: an unusual association

An 80-year-old female presented with melena and anemia due to bleeding from a benign gastric ulcer. Her blood group was O, D+. The serum contained anti-B and a weak anti-A (titer 2 at 18 degrees C). She was inadvertently transfused with approximately 3.5 units of group A red blood cells with no initial ill effects. One week later, the anti- A titer increased to 8 and the direct antiglobulin test (DAT) was weakly positive (IgG and C3d). The next day, intravascular hemolysis became evident. The DAT was still weakly positive and the serum contained a weak cold autoagglutinin, which did not correlate with the severity of the hemolysis. A Donath-Landsteiner test was performed and found to be strongly positive. The antibody showed P specificity, confirming a diagnosis of paroxysmal cold hemoglobinuria (PCH). Exchange transfusion was followed by rapid recovery even though the Donath-Landsteiner test remained positive for at least a month. The patient was well when last seen 11 months after presentation. It was thought that the original low titer of anti-A reflected compromised immune homeostasis in an elderly patient and that stimulation by incompatible blood in those circumstances resulted in a delayed hemolytic transfusion reaction that triggered, exacerbated, or was accompanied by an autoimmune response manifesting as PCH.     

Nephrogenic diabetes insipidus and Werdnig-Hoffmann disease in a child: an unusual association.

The unusual association of Werdnig-Hoffmann disease and nephrogenic diabetes insipidus in a 5-month-old child is described for the first time. The association is casual, considering the different pathways of genetical transmission in these two diseases. The possibility of identifying the heterozygote is discussed and it appears to be limited to nephrogenic diabetes insipidus.