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.

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.

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.

Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature.

Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterised by loss of motor function and muscle atrophy due to anterior horn cell degeneration. The most common variant is chromosome 5-linked proximal SMA, ranging in severity from congenital onset and infantile death to onset in adult life. Genetically separate variants with different distribution of weakness and/or additional features such as central nervous system involvement have been described. A rare variant with associated myoclonic epilepsy and lower motor neuron disease had been previously described in three families before the SMN gene, responsible for the common form of SMA, was isolated. We report four patients from two additional families affected by a syndrome characterised by severe and progressive myoclonic epilepsy and proximal weakness, tremor and lower motor neuron disease proven by electrophysiologic and muscle biopsy findings. Extensive metabolic investigations were normal and genetic analysis excluded the SMN gene. This study confirms that the association of myoclonic epilepsy and motor neuron disease represents a separate clinical and genetic entity from chromosome 5-linked SMA, the primary defect of which remains unknown.

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.

A comparative histopathologic and immunohistopathologic evaluation of cremaster muscles from boys with various inguinoscrotal pathologies.

AIM: It has been hypothesized that the cremaster muscle (CM) might play a part in the pathogenesis of various inguinoscrotal pathologies such as undescended testis and hernia. A prospective study was carried out to determine if CM of boys with hydrocele, inguinal hernia, and undescended testis reveal any histopathological and immunohistopathological alterations. METHODS: Samples of CM from 29 patients presenting with inguinal hernia (15), undescended testis (9), and hydrocele (5), and CM from autopsies of boys without inguinal pathology (2), and samples of internal oblique muscles from patients undergoing laparotomy (3) were obtained. The biopsies were frozen in isopentane-cooled liquid nitrogen, cut in 6 micron sections and stored at -80 degrees C until processed. Sections were stained by hematoxylin-eosin, modified Gomori-trichrome, PAS, Oil Red-O, NADH, SDH and COX. All specimens were evaluated for seven parameters including variation in fibre size, presence of central nucleus, endomysial fibrosis, inflammation, presence of basophilic fibres, increase in perimysial connective tissue, and variation in fibre size between fascicules. The specimens were also evaluated for beta-spectrin, laminin alpha-1 chain, laminin alpha-2 chain, 43 kd distroglycan, and fetal myosin by immunofluorescence. The presence of each parameter was compared, individually and in combination, according to the ages and underlying pathologies. RESULTS: None of the internal oblique muscles were positive for any of the seven parameters. Only one of the two CM obtained during autopsy revealed a slight variation in fibre size. However, fibre size variation and increase in perimysial connective tissue were found in all but one CM from a patient with hernia. The presence or absence of parameters did not differ according to age. Comparison of the groups with inguinal hernia and undescended testis for each of the individual parameters did not reveal significant differences. However, the presence of four or more parameters in each CM was more commonly encountered among patients with undescended testis compared to patients with hernia (p < 0.05). The CM of patients with hydrocele suggested similar findings to patients with inguinal hernia. All of the specimens, regardless of origin, revealed normal sarcolemmal and basal laminal stainings, and fetal myosin was expressed in only two specimens which were obtained from an internal oblique muscle and the CM of a patient with an inguinal hernia. CONCLUSION: The CM of patients with inguinal hernia, hydrocele, and undescended testis reveal histopathological alterations. Furthermore, CM from patients with undescended testis reveal more profound alterations. Whether these alterations reflect a primary muscle pathology or a defect in innervation or changes secondary to inguinoscrotal pathology requires further study.

Giant cell pneumonia in a leukemic child in remission: a case report.

Giant cell pneumonia is a rare and uncommon type of lung infection developing as a complication of measles, especially in immunocompromised patients, whether their immune systems are affected primarily or whether they have acquired immune defects. As well as being uncommon, it is also atypical because of absence of the characteristic rash and of absent or low antibody titers against measles in most of the cases. It is known that cellular immunity is more important than humoral immunity in the host response to measles, so hypogammaglobulinemic patients with normal cellular immunity usually recover uneventfully from measles and also have the characteristic rash. We report a case with giant cell pneumonia that was confirmed by postmortem histopathological examination. We especially want to point out that even in the absence of rash, with the clinical and radiological features of pneumonia, measles should be considered in a patient, whether in remission or not, receiving immunosuppressive treatment.

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.

Polyarteritis nodosa involving the hepatobiliary system in an eight-year-old girl with a previous diagnosis of familial Mediterranean fever.

Polyarteritis nodosa (PAN) is a vasculitis of small- and medium-sized muscular arteries with deposition of immune complex in the vessel wall. Although gastrointestinal involvement is common, the symptomatic involvement of the hepatobiliary system is rare. An eight-year old female patient with a previous diagnosis of familial Mediterranean fever (FMF) was hospitalized for right upper quadrant pain and fever. The thickened gall bladder wall by ultrasonography, called for exploration. Histopathological evaluations of the liver biopsy and gall bladder revealed PAN. Corticosteroid therapy was initiated and the patient recovered fully. This case represents one of the rarest forms of PAN in childhood.

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.

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.

Clinical and histopathological study of merosin-deficient and merosin-positive congenital muscular dystrophy.

The clinical features of merosin-positive congenital muscular dystrophy (CMD) and merosin-deficient CMD are well known, with those of merosin-deficient CMD being more severe. Whether the severity of histopathological findings correlates with these clinical features remains unanswered. In this study, the clinical and histopathological findings of 39 merosin-deficient and 37 merosin-positive CMD patients were compared. Merosin-deficient CMD patients were found to be younger, with earlier onset of symptoms, age of diagnosis, and a more severe clinical state (reflecting maximum motor capacity and contractures). On histopathological evaluation, endomysial fibrosis, perimysial fibrosis, and histopathological state (reflecting fibrosis, adiposis, necrosis, and variation in fiber size) were more severe in merosin-deficient CMD. There was a correlation between clinical and histopathological states only in merosin-deficient CMD.

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.

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.

Primary ovarian lymphoma in an infant: report of a case.

Primary ovarian malignant lymphomas are rarely encountered in children. We present herein the unusual case of an 11-month-old female infant with primary bilateral non-Hodgkin's lymphoma of the ovaries who was treated by bilateral salpingo-oophorectomy followed by chemotherapy. The clinicopathological features of this rare entity are discussed, focusing special emphasis on the diagnostic and therapeutic strategies.

A previously unmentioned surgical observation in the treatment of intussusception.

Intussusception is one of the most common causes of bowel obstruction in infancy which may require surgical treatment. We have recently recognized a pathologically weakened linear area located on the wall of the reduced colon at operation. Thus, a retrospective study was conducted to evaluate the operative and pathological findings of the resected bowel segments for the treatment of intussusception. A pathologically weakened longitudinal linear area was encountered in five patients. This line was strikingly antimesenteric and under the taenia libera. The bowel wall was very thin and effaced on palpation along this whitish line and showed mucosal necrosis, disruption of the muscularis mucosa, and loss of some of the muscular tissue on microscopic examination. The line may result from compression of the inner layers of the bowel wall between the intussusceptum and the noncompliant taenia. Location on the antimesenteric border and under the taenia libera can be explained by local vascular compromise due to the distribution of the terminal arteries of the colon. Thus, the antimesenteric border as well as the mesenteric side should be checked carefully for a longitudinal weakened pressure line. The recognition of such a potentially dangerous weak line on the bowel wall indicates resection.

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.

Cholesteryl ester storage disease: case report during childhood.

Cholesteryl ester storage disease (CESD) is rare and characterized by accumulation of cholesteryl esters and triglycerides in many tissues due to the deficiency of lysosomal acid lipase. We report a 3(1/2)-year-old child with CESD. The diagnosis was indicated by liver biopsy and confirmed by reduced acid lipase activity in leukocytes.