睑裂狭小，倒转型内眦赘皮和上睑下垂综合征一家系11例

睑裂狭小,倒转型内眦赘皮和上睑下垂综合征（Ｂｌｅｐｈａｒｏｐｈｉｍｏｓｉｓｅｐｉｃａｎｔｈｕｓｉｎｖｅｒｓｕｓａｎｄｐｔｏｓｉｓ,ＢＰＥＳ）是一种罕见的常染色体显性遗传性疾病,临床上以睑裂狭小,倒转型内眦赘皮及上睑下垂三联征为特征。本病发病率低,国内外报道的散发病例多,而一家系多人发病的少,现将一家系３代人中１１例患者报道如下。先证者（Ⅲ４）女,１５岁。山东淄博市人,因生后睑裂狭小,视力低下来诊。患者生长发育正常,智力正常,１４岁月经初潮,月经不规则,３～５／１６～３０天。体检：睑裂狭小,倒转型…     

Renal Dysplasia, Situs Inversus Totalis, and Multisystem Fibrosis: A New Syndrome

Renal dysplasia was associated with situs inversus totalis and multisystem fibrosis in a severely hydropic stillborn female fetus. The ureters were duplicated and showed fibrous obliteration. The pancreas, thyroid, and uterus were fibrotic, and the lungs had small and large irregular pulmonary lobules bounded by fibrotic septa. An extensive fibrous pericarditis was considered the etiology of hydrops. A similar spectrum of anomalies including bilateral renal dysplasia, situs inversus totalis, and pancreatic and hepatic fibrosis has been described in three separate reports. Our case is similar with additional findings of fibrosis of the thyroid, uterus, pulmonary septa, and pericardial tissues. We believe the presence of situs inversus totalis, renal dysplasia, and multisystem fibrosis constitutes a new syndrome.     

Miller-Fisher综合征2例

例1,女,14岁,因四肢肌无力,呼吸困难十余日入院。患儿0.5个月前出现四肢渐进性肌无力,近3 d出现呼吸困难,声音低微,吞咽困难,痰多。查体:双下肢肌力0级,双上肢肌力1级,呼吸浅表,声音低微,吞咽困难,痰多,双眼球内聚,外展神经麻痹。血WBC 18.8×109/L,N 0.7。肌电图示神经传导速度减弱,潜伏期延长;血:CK 354 IU/L;脑脊液蛋白 ,细胞数正常,糖、氯化物正常。诊断为第4型Miller     

Upshaw-Schulman Syndrome in Two Siblings

Upshaw-Schulman syndrome is a rare disease, and familial occurrence has not been reported. In this paper, two Japanese brothers, aged 2 and 6 years, with microangiopathic hemolytic anemia, thrombocytopenia and fragmented red cells from the newborn period are reported. Unusually large von Willebrand factor (vWF) multimers were found in the plasma samples from both cases during remission, while the quantities of the unusually large vWF multimers decreased greatly at a low platelet count. They were temporarily relieved from hemolytic anemia and thrombocytopenia by infusions of plasma from normal donors. It appears that our patients lack an unidentified plasma factor, which is genetically determined.     

Two Japanese Patients with Gitelman Syndrome

Gitelman syndrome (GS) is a renal tubular disorder characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria due to defective tubular reabsorption of magnesium and potassium. This disease is caused by mutations of the thiazide-sensitive Na-Cl cotransporter (NCCT) gene, SLC12A3. Manifestations of GS are heterogeneous, from asymptomatic to mild symptoms of cramps and easy fatigue, to tetany and paralysis. Polydipsia, polyuria, and nocturia are also frequent in GS patients. Here we describe two Japanese patients with GS followed as nocturnal enuresis. In the first patient, occasional muscle cramps, easy fatigue and headache led to the diagnosis of GS. The parents of this patient reported that he had been affected by polydipsia and polyuria, especially nocturnal enuresis from early childhood. The second patient was referred to our clinic because of muscular weakness and cramps. He had a past history of transient muscle weakness and muscle cramps. He had also suffered from nocturnal enuresis since 3 yr of age. Laboratory findings of these patients were consistent with those of GS. Sequencing analysis of the SLC12A3 gene from two patients showed four mutations, which were previously reported. In our two patients, their manifestations had been underestimated and the correct diagnosis was delayed. GS is generally likely to be benign, however signs of GS are found in early childhood. Especially, we must recognize that nocturnal enuresis is frequent in symptoms of GS.     

Unilateral Pulmonary Hypoplasia with Abdominal Situs Inversus

A case of unilateral pulmonary hypoplasia in association with abdominal situs inversus (Situs Inversus Partialis) is described here in a 2-mo-old baby. The normally related heart (levocardia) is dextroposed due to the hypoplastic right lung and compensatory hyper-inflation of the opposite lung which clinically mimicked a mirror-image situs inversus totalis. Such a combination, to the best of authors' knowledge, has never been reported in the world literature.     

松软儿综合征2例

1 临床资料 例1,女2岁,因生后全身松软2a入院.患儿足月顺产,第1胎,第1产.母孕期胎动正常.出生时体软,哭声弱,吸吮无力.5个月抬头,8个月独坐,1岁5个月会走,不能跑步.