Kearns-Sayre syndrome - A case report

WOS: 000078643200014PubMed ID: 9677732Kearns-Sayre syndrome (KSS) is a mitochondrial disorder. There is a large-scale mitochondrial DNA (mtDNA) deletion in most of the cases. In this article, a case of KSS who has progressive external ophthalmoplegia (PEO), retinitis pigmentosa (RP), complete heart block, encephalopathy attacks, type-I diabetes mellitus, ragged-red fiber (RRF) and lactic acidosis is presented and discussed in light of the literature available on this subjects. Diagnosis is confirmed by determination of mtDNA deletion

Sensorineural hearing loss as an extra-intestinal manifestation of ulcerative colitis in an adolescent girl with pyoderma gangrenosum

Inflammatory bowel disease is becoming increasingly frequent in children of all ages. In addition to the usual gastrointestinal stigmata of weight loss, anaemia, and rectal bleeding, children may exhibit prominent extra-intestinal manifestations such as joint symptoms, skin signs and some other auto-immune manifestations. Here we present a 15-year-old girl with ulcerative colitis in whom pyoderma gangrenosum and acute sensorineural hearing loss developed. Conclusion: although pyoderma gangrenosum is well described with inflammatory bowel disease, sensorineural hearing loss a is very unusual finding, possibly of auto-immune aetiology. We recommend steroid or immunosuppressive therapy in such a patient

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

The association of adrenocortical carcinoma and thyroid cancer in a child with Peutz-Jeghers syndrome

Peutz-Jeghers syndrome (PJS) is a rare, dominantly inherited disorder characterized by gastrointestinal hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. We present a 16-month-old child diagnosed with PJS, who had distinguishing features compared with the previously reported cases with respect to her clinical presentation, associated malignancies, and genetic analysis. To our knowledge, this is the first report of adrenocortical carcinoma in association with PJS, as well as the first instance of associated thyroid cancer in a child with PJS. We briefly review the relevant literature and highlight the recent progress achieved in the investigation of the syndrome. (c) 2011 Elsevier Inc. All rights reserved

Calpain-3 deficiency causes a mild muscular dystrophy in childhood

Among our 20 families with LGMD2, 10 were documented to have muscle-specific calcium-activated neutral protease 3 (calpain-3) deficiency. Consanguinity was present in all. The current ages of the index cases were between 12 and 23 years, and there were additional nine members affected. Clinically, the patients showed mild courses; none of the cases below age 30 lost autonomy so far. The dystrophy is mainly proximal and atrophic with calf enlargement and scapular wasting in some. In three cases walking was delayed. Creatine kinase levels were at least 10 times elevated. All obligate carriers had normal creatine kinase levels. Five families shared the same 551 delA frameshift mutation. In four of these families there was the same core haplotype, whereas one was distinct suggesting an independent origin. Calpain-3 deficiency in general is a mild muscular dystrophy during childhood

The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy.

Complete or partial deficiency of the laminin alpha2 chain of merosin has been demonstrated in a proportion of children with classical congenital muscular dystrophy and linkage to the laminin alpha2 chain gene (LAMA2) on chromosome 6q2 has been established. As the laminin alpha2 chain is also expressed in the trophoblast, its detection and linkage analysis are useful tools for prenatal diagnosis. We report our experience of seven prenatal diagnoses in families with partial deficiency or total absence of the laminin alpha2 chain in the muscle of the propositi. In five instances, expression of the laminin alpha2 chain in the trophoblast was normal and linkage data suggested that the fetuses were unaffected. In one family, the immunocytochemical studies of the trophoblast showed the absence of laminin alpha2, suggesting that the fetus was affected. Linkage analysis confirmed that the fetus had inherited the two at-risk haplotypes. In one family with partial laminin alpha2 chain deficiency, the haplotype analysis was hampered by maternal DNA contamination. Immunocytochemical analysis of chorionic villus sampling showed a reduction in laminin alpha2 expression. The pregnancy was presumed to be at high-risk and terminated. However, subsequent analysis of fetal DNA indicated that the fetus was probably heterozygous. Our data suggest that immunocytochemical analysis of the trophoblast can detect abnormalities in affected fetuses and gives normal results in unaffected and carrier fetuses. Nevertheless, we recommend that linkage analysis to the LAMA2 locus is also studied in all cases

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, α sarcoglycan deficiency 2, β sarcoglycan deficiency 7, γ sarcoglycan deficiency 5, δ 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.
γ 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 γ sarcoglycan deficiency showed normal or only mildly abnormal δ sarcoglycan staining.


Keywords: limb-girdle muscular dystrophy; genetic linkage analysis; sarcolemmal complex protein

Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

Item does not contain fulltextPreviously, we reported results indicating that nebulin was the gene causing the typical form of autosomal recessive nemaline (rod) myopathy. Here we describe the identification of mutations in the nebulin gene in seven offspring of five families affected by the severe congenital form of nemaline myopathy. One pregnancy was terminated on the grounds of foetal abnormality, while six affected infants died at ages ranging from the first day of life to 19 months. Only three of the six neonates were able to establish spontaneous respiration. Three had arthrogryposis. In three of the five families, the mutations were located in exon 184. These mutations are predicted to cause absence of the C-terminal part of nebulin