A new congenital myopathy in a Norwegian family

A 6-y-old boy presented with a mild, and apparently non-progressive, congenital myopathy, primarily affecting explosive movements such as running and jumping. Five other cases, spanning four generations, were identified in his family. A dominant inheritance pattern was suggested. Quadriceps muscle histology showed a selective type II fibre atrophy, which is otherwise considered a non-specific change associated with a number of conditions. Conclusion: A Norwegian boy with an inherited muscle weakness is presented. Based on clinical and laboratory investigations, and in light of the inheritance pattern, a previously undescribed congenital myopathy is suggested.     

Autosomal recessive tubular aggregate myopathy in an Indian family

Tubular aggregate myopathy has been reported in 25 patients worldwide, predominantly in Caucasians and mostly of autosomal dominant inheritance. We are reporting three affected members of an Indian family with autosomal recessive form of the disease, who in addition had varied clinical presentations of the same disease process.     

A new case of severe congenital nemaline myopathy

The case of a neonate with a rapidly fatal course of nemaline myopathy is reported. Neonatal history and clinical findings suggested a postasphyxia syndrome, but dependence on mechanical ventilation in the absence of severe brain damage or evidence of heart and lung involvement prompted us to perform a muscle biopsy. The typical rod-shaped bodies of nemaline myopathy were observed in skeletal and heart muscle which is unusual in infantile forms. Neonatal bone fractures, which have not been reported previously, were detected. Due to the rapid evolution of the neonatal form, many of these patients may die undiagnosed in the perinatal period, the families remaining unaware of the existence of the genetic disorder. Therefore, if severe hypotonia persists in a neonate, together with dependence on assisted breathing, specific examinations, such as muscle enzyme determination, NCV, EMG and if indicated, muscle biopsy should be performed to rule out neuromuscular disease.     

Hemophilia A and congenital hypofibrinogenemia: A rare association in same family

Hemophilia A is the commonest inherited coagulation defect in human beings, whereas congenital hypofibrinogenemia is a much rarer disease. Occurrence of these two inherited diseases in the same family has not been reported so far. Younger sibling of a known case of Hemophilia A presented with recurrent, spontaneously occurring echymotic spots having prolonged PT, APTT, TT and very low absolute fibrinogen level with normal factor VIII level ultimately diagnosed as a case of congenital hypofibrinogenemia.     

Congenital fibre type disproportion myopathy. A histological diagnosis with an uncertain clinical outlook.

Nine children with congenital fibre type disproportion (CFTD) are described. Their muscle biopsies contained type 1 fibres which were smaller than the largest type 2 fibres by at least 13.5%. Attention is drawn to the variable natural history of this disorder which generally carries a good prognosis but may sometimes be associated with fatal respiratory problems. For important therapeutic, genetic, and prognostic reasons CFTD must be distinguished from other conditions with similar histochemical or clinical features.     

Rod myopathy. A fatal neonatal case

A new lethal case of nemaline myopathy is reported. Muscle biopsy at 20 days of age permitted the diagnosis but this boy died at the 35th day of life. In a review of the literature (15 similar cases) the authors analyse the diagnostic, histopathogenic, genetic and evolutive aspects of this heterogeneous disorder, apparently less "benign" than previously thought.     

Muscle MRI findings in a three-generation family affected by Bethlem myopathy

We report clinical and muscle magnetic resonance imaging (MRI) findings in three individuals (aged 6, 26 and 73 years) from a three-generation family with Bethlem myopathy, confirmed by molecular genetic analysis which showed an exon skipping mutation in the COL6A1 gene. The clinical severity ranged from mild proximal weakness and distal laxity in the younger patients, to inability to stand or walk and severe contractures in the 76-year-old grandmother. The pattern of muscle involvement showed variable severity in parallel with the severity of motor function impairment. Although there was a marked variability in the severity of the MRI findings, it was possible to recognize a specific pattern of muscle involvement in all three patients. This consisted of involvement of the peripheral region of the vastus lateralis and hamstrings muscles with relative sparing of their central part. This was best appreciated in the third decade of life, but could also be identified both in the younger patient with minimal MRI changes and in the oldest patient, despite her more severe and diffuse muscle involvement. This report suggests that muscle MRI could be used as an additional tool to establish the pattern and the degree of muscle involvement in patients with Bethlem myopathy. Further studies in a larger cohort are needed to evaluate the specificity of these findings.     

A family study of cases with unidentified multiple congenital abnormality

A family study was conducted in 1384 index patients affected by unidentified MCAs, which represented a 50.6% sample of the population-based material of the Hungarian Congenital Malformation Registry, 1973-1980. 39 cases due to misdiagnosis, and 32 cases due to a recently achieved nosological diagnosis were excluded. Furthermore, for 109 index patients no new home address was available and 166 families refused to cooperate or they were not able to give a complex dataset. Finally, affected first degree relatives of 1038 index patients were evaluated on the basis of medical documentation. 5.1% of fathers and 4.2% of mothers were affected and more than half of them were affected by one component congenital anomaly of index patients. The sib-occurrence of congenital anomalies and of multiple congenital abnormalities was 11.0% and 3.5%, respectively. The specific sib-occurrence (i.e. fully of half-concordant congenital anomalies in sibs) was 5.5%. Furthermore, there is an increased risk for fetal death in previous and subsequent pregnancies of index patients' mothers. By the help of the family study multiple congenital abnormality entities were identified in 78% of sib-occurrence of unidentified multiple congenital abnormalities. Some previously delineated congenital anomaly syndromes were recognized and six probably new syndromes or associations were delineated.     

Respiratory deterioration during growth hormone therapy in a case of congenital nemaline myopathy

Congenital nemaline myopathy (CNM) is generally classified as a non-progressive or slowly progressive neuromuscular disease. We describe a boy with CNM and an isolated partial growth hormone (GH) deficiency. From the onset of GH therapy his respiratory capacity deteriorated rapidly. The possible association between this deterioration and GH therapy is discussed.     

Leber's congenital amaurosis: an update.

Leber's congenital amaurosis (LCA) is a clinically and genetically heterogeneous disorder characterized by severe loss of vision at birth. It accounts for 10-18% of cases of congenital blindness. Some patients exhibit only blindness of retinal origin whereas others show evidence of a multi-systemic involvement. We review the literature relating to this severe disorder, highlighting unresolved questions, in particular the nature of the association of LCA with mental retardation and with systemic findings and syndromic pictures. In recent years, genetic advances in the diagnosis of LCA have opened up new horizons, also from a therapeutic point of view. A better understanding of this pathology would be valuable for paediatric neurologists.     

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??Abstract?? Myopathology can be used to accurately specify the diagnosis and the classification of the inflammatory myopathy. In general??pathological changes of inflammatory myopathy are muscle fibre necrosis??regeneration??and focal invasion by inflammatory cells.The distinctive pathological features of most common idiopathic autoimmune inflammatory myopathies are????1??dermatomyositis??perifascicular atrophy with CD4+ lymphocyte around the perimysial blood vessels.??2??Polymyositis??endomysial lymphocyte infiltration??CD8+ lymphocyte invasion of non-necrotic fibres with MCH-I expression.??3??Immune-mediated necrotizing myopathies?? prominent necrotic fibres?? with sparse or slightly myophagocytosis.??4??Sporadic inclusion body myositis??endomysial mononuclear inflammatory infiltration with invasion of non-necrotic muscle fibres?? rimmed vacuoles??ultrastructural tabulofilaments of 16??21 nm.     

Clinical variability of congenital myopathy with type I fiber atrophy: A long-term observation of three cases

The variable clinical courses of three cases of congenital fiber type disproportion (CFTD) over a period of 10 years are presented. All showed improvement in early childhood, but subsequently, varying degrees of deterioration were noted: specifically, marked deterioration in case 2 and decreased muscle strength in case 3. Maximal motor function levels were attained differently among the cases. Histological findings included type 1 fiber hypotrophy and increased internal nuclei in common in all cases. Fine structural changes, such as patchy areas of myofibrillar degeneration, were noted in cases 1 and 2 (second biopsy), and cytoplasmic bodies were seen in case 2 (second biopsy). Myotubes were noted in case 3. The degree of cyto-architectural changes did not correlate with clinical severity. The heterogeneity of CFTD is also discussed.     

新生儿先天重度型杆状体肌病1例临床特点及基因突变分析

患儿,男,34⁺⁵周,因生后无哭声、反应差5 min入院。患儿系第3胎第2产,因"胎膜早破"剖宫产娩出,出生体重1.68 kg,羊水3 000 mL、色清,经初步复苏后,无哭声,反应差,心率80次/分,皮肤青紫,立即给予气囊面罩正压通气45 s后心率120次/分,肤色转红,仍无自主呼吸,反应差,立即给予气管插管正压通气1 min后,呼吸表浅,不规则,Apgar评分：1分钟5分、5分钟7分。立即转入新生儿重症监护室。母亲孕期未定期产检,曾于2013年剖宫产娩出一孕37周男婴,出生体重1.7 kg,生后四肢僵硬、水肿,羊水多,出生半天夭折。入院查体：神志不清,压眶有反应,对光反射迟钝,呼吸表浅、不规则,双肺呼吸音低,未闻及湿啰音,心率120次/分,腹部平软,肝脾未触及,双下肢硬肿,四肢无自主活动,肌张力低,肘关节、膝关节不能伸直,双手握拳,双手食指关节挛缩,原始反射均减弱。入院后行血常规、肝功能、肾功能、血糖、血脂、电解质、心肌酶谱检查均无明显异常,维持气管插管机械通气,予哌拉西林钠他唑巴坦钠抗炎、补液等治疗。入院第2天,患儿病情加重,浅昏迷状态,压眶反射迟钝,瞳孔等大等圆,对光反射迟钝,偶有眼球上翻,呼吸表浅,继续气管插管机械通气维持生命体征。第3天血遗传代谢病筛查无异常。住院期间一直给予气管插管机械通气、抗炎、改善循环、营养心肌等治疗,患儿病情无好转,仍处于浅昏迷状态,压眶反射迟钝,对光反射迟钝,呼吸表浅,家属于患儿出生后第6天放弃治疗,放弃6 h后死亡。     

Generalized myopathy and cerebral malformations possibly related to an enteroviral infection.

A study was made on a case of generalized muscular hypotonus manifested at birth. Serological findings and epidemiological data suggested an association to a recently described enterovirus infection (enterovirus candidate 71) known to cause neurological disease in man. Autopsy revealed cerebral malformations and generalized myopathy compatible with a viral etiology of the disease.