Xanthoma disseminatum: a child with respiratory system involvement and bronchiectasis.

Xanthoma disseminatum (XD) is a rare normolipemic mucocutaneous xanthomatosis due to the proliferation of non-x histiocytes. Occasional involvement of the upper respiratory system has been reported, but lower respiratory tract involvement is very rare. Here, we present a child with severe involvement of the upper and lower respiratory tract by XD and bronchiectasis in the lower lobes of both lungs. The patient was an 8-year-old boy who was admitted to our hospital because of red-brown papules which developed on the skin and progressive dyspnea. He was diagnosed as having XD by skin biopsy. Physical examination revealed disseminated, numerous yellow-reddish brown papular xanthomas on the forehead and eyelids, around the neck and axillary area, and in the oral cavity and pharynx. He had respiratory distress and clubbing of the fingers. Chest x-rays showed hyperaeration and segmental atelectasis. High-resolution CT of the thorax revealed diffuse thickening of the whole tracheal and bronchial wall, and bronchiectasis in the lower lobes. Flexible fiberoptic bronchoscopy revealed numerous xanthomatous lesions in the nasal cavity, nasopharynx, oropharynx, subglottic area, trachea, bifurcation, both main bronchi, and smaller bronchi. To the best of our knowledge, this is the first report of a child with typical lesions of XD with severe involvement of the lower respiratory tract and bronchiectasis.

A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families.

Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis for the known loci of LGMD2A-F and protein studies using immunofluorescence and western blotting of the sarcoglycan complex. One index case in each family was investigated thoroughly. The age of onset and the current ages were between 11/2 and 15 years and 6 and 36 years, respectively. The classification of families was as follows: calpainopathy 7, dysferlinopathy 3, alpha sarcoglycan deficiency 2, beta sarcoglycan deficiency 7, gamma sarcoglycan deficiency 5, delta sarcoglycan deficiency 1, and merosinopathy 2. There were two families showing an Emery-Dreifuss phenotype and nine showing no linkage to the LGMD2A-F loci, and they had preserved sarcoglycans. gamma sarcoglycan deficiency seems to be the most severe group as a whole, whereas dysferlinopathy is the mildest. Interfamilial variation was not uncommon. Cardiomyopathy was not present in any of the families. In sarcoglycan deficiencies, sarcoglycans other than the primary ones may also be considerably reduced; however, this may not be reflected in the phenotype. Many cases of primary gamma sarcoglycan deficiency showed normal or only mildly abnormal delta sarcoglycan staining.

Primary lacrimal sac non-Hodgkin's lymphoma in a child.

Primary lacrimal sac lymphoma is extremely rare in children. To our knowledge, only two previous cases have been reported in the literature. Here, we report the case of a 9-year-old girl with primary lacrimal sac lymphoma who has recurrent mass.

A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F.

We present the first Turkish family with delta-sarcoglycanopathy (LGMD2F). A novel truncating mutation (E93X) in exon 3 was identified in the gene. The index case showed a severe course and there was no cardiac involvement. LGMD2F seems to be rare in our population.

Comparison of three different primer pairs for the detection of Mycobacterium tuberculosis by polymerase chain reaction in paraffin-embedded tissues.

SETTING: More than five different primer pairs have been used for the detection of Mycobacterium tuberculosis deoxyribonucleic acid (DNA) with the polymerase chain reaction (PCR). OBJECTIVE: The sensitivity and specificity of PCR were evaluated using three different primer pairs in the detection of M. tuberculosis in paraffin-embedded tissues. DESIGN: Thirty-eight tissue specimens from 23 patients were studied. Eighteen samples were obtained from 10 tuberculosis patients, and 20 samples obtained from 13 patients with other diseases were used as negative controls. DNA extracted from paraffin-embedded tissues was used directly for PCR amplification using primers IS1 and IS2 to amplify a 123 base pair (bp) region of IS6110, sjMT3 and sjMTr2 to amplify a 281 bp region of protein antigen b, and INS1 and INS2 to amplify a 245 bp region of IS986. Each amplification was performed double-blinded and repeated three times including positive and negative control samples. RESULTS: IS1 and IS2 gave a positive result in each of the double samples obtained from eight tuberculosis patients and in the single samples obtained in the two others, sjMT3 and sjMTr2 detected 13 of the 18 tuberculosis samples, and INS1 and INS2 detected only three of the 18. CONCLUSION: These results highlight the importance of selecting appropriate primers to obtain high sensitivity in detecting M. tuberculosis in paraffin-embedded tissues by PCR.

Leigh syndrome in a 3-year-old boy with unusual brain MR imaging and pathologic findings.

We report unusual MR serial imaging and electron microscopy findings in a 3-year-old boy who had Leigh syndrome with cytochrome-c oxidase (cox) deficiency. The MR imaging findings included periventricular white matter involvement, posteroanterior progression, and extension through the corpus callosum and internal capsule; however, no basal ganglia or brain stem abnormality was found, which was suggestive of leukodystrophy. The most noteworthy findings were the cystic foci with contrast enhancement in the affected white matter.

Pulmonary involvement in a child with ligneous conjunctivitis and homozygous type I plasminogen deficiency.

Ligneous conjunctivitis (LC) is a rare disorder characterized by a chronic course of recurrent membranous lesions at conjunctivae. Pseudomembranes of other mucous membranes have been reported in patients with LC, but to the best of our knowledge, no case with alveolar involvement has been described. Here, we report a 2.5-year-old girl with LC who had tracheoaveolar involvement and homozygous type I plasminogen deficiency. Tracheal involvement was diagnosed by bronchoscopic biopsy and alveolar involvement with postmortem biopsy. She was shown to be homozygous for frameshift mutation in plasminogen exon 14 (Gly565ins-G) with molecular genetic examination of DNA which was obtained from parafin embedded postmortem lung tissue. Ligneous inflammation of the upper and lower respiratory tract must be considered in children with LC and recurrent respiratory tract problems.

Merosin-positive congenital muscular dystrophy with mental retardation and cataracts: a new entity in two families.

Merosin-positive congenital muscular dystrophy is a heterogenous group of disorders with varying clinical presentations and severity. In general, central nervous system involvement is not present. There is also evidence for still unclassified forms. Here we report three cases in two families with merosin-positive congenital muscular dystrophy, mild mental retardation, bilateral cataracts and normal cranial magnetic resonance imaging. To our knowledge, such an association has not been reported previously, and thus is a new entity within congenital muscular dystrophy nosology.

mtDNA nt3243 mutation, external ophthalmoplegia, and hypogonadism in an adolescent girl.

A 14-year-old girl presented with a 3-month history of easy fatigue and exercise intolerance, especially when climbing stairs. She had a mild ptosis and mild limitation of upward gaze. Her puberty was delayed, and she manifested hypogonadotrophic hypogonadism. Serum lactic and pyruvic acids were elevated. Cranial magnetic resonance imaging was normal. Muscle biopsy documented typical ragged-red fibers. A point mutation at nucleotide 3243 in the tRNALeu(UUR) (typical mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) mutation) was detected in mitochondrial DNA from both blood and muscle tissues, indicating that our patient was suffering from a mitochondrial myopathy. Hypogonadism may be a manifestation of the MELAS nucleotide 3243 mutation.

Granulomatous osteomyelitis of the sternum presenting with a parasternal mass: a possible relation to the bacillus Calmette-Guérin vaccine.

Because they are frequently malignant, swellings of the chest wall during infancy are alarming lesions. Sternal osteomyelitis is a rare condition that may present with a chest wall mass locating in the parasternal region. A parasternal mass of granulomatous osteomyelitic origin is an extremely rare cause with only few case being reported to date. Herein, the authors report on 2 infants presenting with parasternal masses of sternal granulomatous osteomyelitic origin and discuss the possible etiologic role of the bacillus Calmette-Guérin vaccine.

Enteritis cystica profunda causing ileoileal intussusception in a child.

Enteritis cystica profunda (ECP) is an exceedingly rare lesion of the small intestine. It has identical histopathologic features as colitis cystica profunda, which is mainly a disease of adults and a rare benign lesion of the distal colon and rectum of uncertain cause. Only 12 cases of ECP with only one pediatric case, have been reported in English-language medical literature. Here the authors present the second pediatric case of ECP with the literature review and discussion of the etiology.

Transverse testicular ectopia with persistent müllerian duct syndrome.

Transverse testicular ectopia is rarely associated with persistent müllerian duct syndrome. The ninth pediatric case of transverse testicular ectopia with persistent müllerian duct syndrome is reported. The clinical and operative findings and treatment are discussed. The importance of abdominal exploration in the presence of two gonads in one inguinal side and the avoidance of dissection of müllerian structures has been stressed.

Diagnostic difficulties in neuronal intestinal dysplasia and segmental colitis.

An 11-month-old girl with a prolonged history of bloody, mucoid diarrhea is presented. Although the initial diagnosis given by the rectosigmoid biopsy obtained during laparotomy was neuronal intestinal dysplasia, accompanying findings including mixed inflammatory cell infiltration of the mucosa and submucosa with mucosal ulcerations suggested nonspecific colitis. The subsequent biopsy specimen that was obtained after performing colostomy and treating with broad-spectrum antibiotics and rectal irrigations showed improvement in the structure of ganglion cells and submucous and myenteric plexuses. Although the mucosal ulcerations and inflammatory reaction improved, the colonic stricture persisted, so the Duhamel procedure was performed, and the patient had an uneventful outcome. It is claimed that inflammatory disease of the rectosigmoid colon of unknown etiology and neuronal intestinal dysplasia have occurred together in the current case or that one disease might cause the other in time.

Obstructive jaundice resulting from adenocarcinoma of the ampulla of Vater in an 11-year-old boy.

Adenocarcinoma of ampulla of Vater causing obstructive jaundice in an 11-year-old boy is reported. He first underwent pylorus-preserving duodenectomy, which later necessitated classical Whipple operation because of the microscopical evidence of the disease beyond surgical margins. This child is the youngest case of adenocarcinoma of ampulla of Vater in the English-language literature.

Inflammatory pseudotumor causing intestinal obstruction: diagnostic and therapeutic aspects.

The authors report an unusual presentation of inflammatory pseudotumor (IPT) that caused intestinal obstruction in a 9-year-old boy, and discuss the clinicopathologic features of this rare entity with emphasis on diagnosis and treatment. There are no specific presumptive clinical and laboratory findings, including tumor markers and imaging techniques, that distinguish mesenteric IPT from other abdominal mass lesions. The most important diagnostic aid is to bear this entity in mind when a child presents with intestinal obstruction associated with an abdominal mass. Radical unnecessary surgical procedures or potentially harmful therapy should be avoided, and appropriate treatment is achieved by total excision of the lesion in most of the cases.

Chest wall hamartoma: an alarming chest lesion with a benign course.

Chest wall hamartoma is a very rare mass lesion of the chest wall that is manifest at birth or in early infancy with deformity of the thoracic wall and/or varying grades of respiratory distress. The authors report on an 11-month-old infant presenting with chest wall hamartoma who was treated by en bloc excision of the lesion including the involved ribs. They emphasize the importance of early and complete excision of the lesion even in minimally symptomatic patients to avoid lethal respiratory complications, more severe postoperative orthopedic problems, and malignant transformation.

Teratoid Wilms' tumor. A unilateral case.

A unilateral teratoid Wilms' tumor in a 3-year-old girl is presented. Histopathologic features of this rare variety, differential diagnosis and effects of chemotherapy are discussed in light of other reports in the literature.

Endobronchial leiomyoma in children.

Pulmonary leiomyomas are among the most rarely encountered benign tumors of the lung in all age groups. The endobronchial origin and occurrence in children is extremely rare for this tumor. The cases described reflect the efficacy of bronchoscopy in the diagnosis and treatment of endobronchial leiomyoma encountered in children.

Ectopic gastric mucosa causing dysphagia due to strictures in a boy.

Ectopic gastric mucosa in the upper esophagus has been reported previously in neonatal autopsy series and encountered in adult esophagoscopies. Despite the usual asymptomatic course of the disease, symptomatic adults have been reported. However there is no report of a symptomatic child with ectopic gastric mucosa in the literature. A 12-year-old boy presenting with dysphagia due to strictures resulting from circular patches of ectopic gastric mucosa located in the mid esophagus is reported.

Ectopic thymic tissue as a rare and confusing entity.

A 16-year-old girl with intrathyroidal ectopic thymic tissue, which was diagnosed incidentally after surgery for thyroid nodule, is reported to emphasise the possible clinical and surgical presentations of this rare entity.