喂养困难伴运动发育落后8个月、眼球震颤4个月

芳香族L-氨基酸脱羧酶(AADC)缺乏症是一种罕见的常染色体隐性遗传病,为AADC缺乏导致的先天性神经递质生物合成的代谢紊乱。主要表现为肌张力低下、动眼危象、自主神经功能紊乱、发育落后等,目前尚无成熟的治疗方法。该文报道1例表现为发育落后、肌张力低下、动眼危象的男性患儿,代谢性疾病基因筛查发现多巴胺脱羧酶(DDC)基因外显子区域存在新的复合杂合突变:c.1063dup A(p.I355fs)、c.250AC(p.S84R),血滤纸片3-O-甲基多巴明显升高,因此确诊为AADC缺乏症。给予多巴胺受体激动剂盐酸普拉克索、儿茶酚-O-甲基转移酶抑制剂恩他卡朋联合维生素B6治疗,患儿肌张力低下、眼睑下垂、动眼危象得到轻度改善。临床医师应提高对AADC缺乏症这一罕见病的识别能力,对肌张力低下、运动落后、动眼危象的患儿应考虑到此病,以期予以早期诊断及治疗,并为有需要的患儿父母提供优生遗传咨询及产前诊断。     

Suturas transconjuntivales del tapete escleral en maculopatía hipotónica tardía tras esclerectomía profunda no perforante

Clinical case

A 63-year-old man presents with late hypotony maculopathy after non-penetrating deep sclerectomy. Hypotonia and visual acuity are improved after transconjunctival suturing of the scleral flap.

A simple clinical test for differentiating physiological from pathological head lag in full-term newborn infants

This prospective study was designed to assess the value of a simple clinical test, a “feeding test”, on the outcome of head lag among term neonates. Of 5718 infants who were examined before their morning meal, 67 had moderate to severe head lag in the absence of predisposing risk factors for head lag. Fifteen minutes following feeding, 62 infants (92%) showed an improvement in or disappearance of head lag with concomitant rise in serum glucose. All of these infants had normal psychomotor development on follow up. In 4 infants in whom no improvement occurred after feeding, an underlying pathological cause for head lag was subsequently diagnosed. Conclusion Use of the feeding test as a screening procedure in apparently healthy newborns with head lag may rule out pathological conditions in over 90% of the cases. Received: 18 February 1997 and in revised form: 30 September 1997 / Accepted: 2 October 1997     

4-Hydroxybutyric aciduria in a patient without ataxia or convulsions

A child presenting with mild psychomotor retardation, hypotonia, microcephaly and hyperkinesis is described. Urinary organic acid analysis by combined gas chromatography-mass spectrometry revealed 4-hydroxybutyric aciduria. Succinic semialdehyde dehydrogenase activity in extracts of white cells derived from the patient was less than 10% of control values.Abbreviation GABA gamma aminobutyric acid     

Pompe's disease in childhood: A metabolic myopathy

Background: Myopathy of metabolic origin in childhood occurs due to a variety of conditions. Pompe's Disease also known as Glycogen storage disease Type II, is a rare storage disorder with clinical presentation akin to spinal muscular atrophy.     

产前盆底肌功能锻炼对阴道分娩及盆底肌张力的影响

目的 观察产前盆底肌功能锻炼对阴道分娩及盆底肌张力的影响. 方法 回顾性分析阴道分娩的90例产妇临床资料,随机分为两组各45例.对照组采用常规产前准备,观察组在常规产前准备的基础上进行产前盆底肌功能锻炼.比较两组产妇的产程、分娩方式及盆底肌张力. 结果 观察组产程明显短于对照组,观察组顺产率为93.3%、明显高于对照组的77.8%;观察组产妇分娩后的盆底肌张力明显优于对照组,组间差异均有统计学意义（P＜0.05）. 结论 产前盆底肌功能锻炼有助于胎儿顺产和产妇产后康复.     

Prevalence of motor impairment in autism spectrum disorders

Autism spectrum disorders (ASD) are manifest as impairments in social interaction, language and speech development, and the appearance of repetitive behaviors with restricted interests. Motor impairments in individuals with ASD have been categorized as "associated symptoms". The objective of this study was to describe the prevalence of motor deficits in ASD. Specifically, using retrospective clinical record review, we report the prevalence of hypotonia, motor apraxia, reduced ankle mobility, history of gross motor delay, and toe-walking, as well as the improvement of these symptoms with age, in a cohort of 154 children with ASD. The possible association of motor deficits with epilepsy or developmental regression was also assessed. To address whether the motor deficits in children with ASD were properly identified and treated, we evaluated whether the children with the motor deficits were more likely to receive physical and/or occupational therapies as compared to the children with ASD who did not show motor deficits. Hypotonia was the most common motor symptom in our ASD cohort (51%) and this appeared to improve over time, as suggested by the significant reduction in prevalence in older children (p=0.002). Likewise, motor apraxia (34%) showed a tendency to be more prevalent among younger children as compared with older children (p=0.06). Historical intermittent toe-walking was found in 19% of children while reduced ankle mobility was a rare occurrence. Gross motor delay was reported in 9% of children, all of whom gained motor independence by the time of examination. Except for gross motor delay, ASD children with fine motor deficits were not more likely to receive interventional services, as compared with ASD children without the motor deficits. The results suggest that fine motor control and programming deficits are common co-occurrence of children with ASD in this cohort. The reduced prevalence of these motor deficits in older children suggests improvement over time, whether through natural progression, results of interventional therapy, or the combination of the two. However, ASD children with the motor deficits were not more likely to receive service than those without the motor deficits.     

Midbrain disconnection: An aetiology of severe central neonatal hypotonia

A full term girl exhibited massive hypotonia related to severe posterior fossa abnormalities consisting of pontocerebellar hypoplasia with midbrain disconnection. The latter was due to lack of one and marked hypoplasia of the other cerebral peduncles. In addition, there was mild vermian and cerebellar hypoplasia. Compared to usual pontocerebellar hypoplasia, the midbrain disconnection is a distinctive feature of our case. It is a rare malformation only three similar cases have previously been described.     

Kongenitale Muskeldystrophie

Zusammenfassung Es wird über vier Kinder mit kongenitaler Muskeldystrophie berichtet. Alle Patienten boten bereits bei der Geburt das typische klinische Bild mit Schwäche und Hypotonie einer mangelhaft angelegten Muskulatur. Die Diagnose wurde histologisch gesichert. Dabei waren Veränderungen zu beobachten, die dem Endstadium der progressiven Muskeldystrophie entsprechen: Atrophierte und (pseudo)hypotrophierte Muskelfasern mit deutlichen Kaliberschwankungen; Vermehrung des peri- und endomysialen Bindegewebes sowie interstitielle Makrophagenaktivierung.Bei einer Patientin (B. H.) war der Nachweis eines IgG-Paraproteins bemerkenswert; ein solcher Befund ist bisher nicht beschrieben worden.

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Congenital muscular dystrophy

Four cases of congenital muscular dystrophy are reported. All patients presented a clinical picture which was characterized by muscular weakness and hypotonia already manifest at birth. The diagnosis was confirmed by a muscle biopsy. The histological findings were similar to those observed in the final stage of progressive muscular dystrophy: Atrophic and (pseudo) hypertrophic fibres with great variations in size, an increase of perimysial and endomysial connective tissue, and an interstitial activation of macrophages.In one case (B. H.) an IgG-paraproteinemia was found which seems remarkable; similar observations in combination with muscular dystrophy have not yet been described in the literature.

Herrn Professor Dr. K. H. Schäfer zum 60. Geburtstag