Fatal hemorrhagic stroke in a Caucasian girl with moyamoya disease

Introduction

Moyamoya disease (MMD) is an extremely rare neurovascular disorder in Caucasian children. To the best of our knowledge, the aggressive variant including hemorrhagic malignant stroke and consecutive global ischemia has not been reported for this population before.

Case report

We present the case of an 11-year-old girl with sudden neurological deterioration due to intracerebral hemorrhage with early irruption into the ventricular system. MMD with extensive neovascularization was diagnosed by means of computed tomography and magnetic resonance imaging. Despite immediate ventricular drainage, intracranial pressure increased above the mean arterial pressure resulting in malignant bi-hemispheric ischemia. The girl died within 53 h after admission to hospital.

Discussion

Intracerebral hemorrhage in young patients is often attributed to vascular malformation. This case shows that MMD may constitute a potential diagnosis in the case of sudden neurological deterioration and loss of consciousness, even in previously healthy children.     

Rigid spine syndrome in a girl

Summary A 15-year-old girl had a lifelong history of moderate proximal muscle weakness, progressively impaired mobility of her spine and limited extension of her elbow joints, compatible with the rigid spine syndrome. Her neck muscles showed a nonspecific myopathy, her biceps muscle type I fiber predominance and type II B fiber deficiency previously demonstrated in the male rigid spine syndrome.

---

Zusammenfassung Ein 15jähriges Mädchen litt seit früher Kindheit an einer mäßig ausgeprägten, nur initial progredienten proximalen Muskelschwäche sowie einer fortschreitenden Versteifung der Wirbelsäule und unvollständiger Streckbarkeit der Ellenbogengelenke, vereinbar mit einem rigid spine-Syndrom. Histologisch fand sich in der Nackenmuskulatur eine unspezifische Myopathie, während der M. biceps brachii eine Typ-I-Faserprädominanz und einen Typ-II B-Mangel aufwies, wie schon früher beschrieben. Das rigid spine-Syndrom ist somit nicht auf männliche Patienten beschränkt.

     

Cotard's syndrome in a 15-year-old girl

We here describe a case of Cotard's syndrome in a 15-year-old girl who exhibited a short period of malignant catatonia, and the positive effect of electroconvulsive therapy (ECT) on her disorder. A psychopathological hypothesis is proposed.     

Stiff man syndrome in a black girl.

A patient suffering from severe and continuous muscular spasms is presented. The condition has been classified as the stiff man syndrome and is the first case recorded of the condition in a young African girl. The electrophysiological, biochemical, histochemical, and ultramicroscopic aspects of this disorder have been studied. The spasm appears to be related to overproduction of brain noradrenaline.     

Eaton-Lambert syndrome in a 9-year-old girl.

A girl with Eaton-Lambert syndrome had symptoms beginning at the age of 9 years. An extensive search for underlying neoplasm or definable autoimmune disease gave negative findings.     

Thelarche variant in a girl with Angelman syndrome

A case of Angelman syndrome (AS) with thelarche variant in a 4.5-year-old girl is presented. Clinical suspicion of AS was raised at the age of 15 months when she presented with mental retardation and epilepsy, absence of speech, ataxic gait with jerky movements, hyperactivity and paroxysmal episodes of laughter. Moreover, she had facial dysmorphic features such as microbrachycephaly, mid-facial hypoplasia, macrostomia and prominent mandible. Dinucleotide repeat polymorphism (DNRP) analysis, identified absence of maternal alleles at D15S543, D15S113 and GABRB3 loci, findings consistent with AS. Studies on CYP19 locus (outside the 15q11-13 region) revealed the presence of two different alleles, thus excluding the possibility of paternal isodisomy of chromosome 15 in this patient. Breast development at the age of 4.5 years, accompanied by accelerated growth velocity and bone age suggested the diagnosis of variant thelarche. This is the second case of AS with sexual precocity reported and whether this combination is a coincidence or not remains to be clarified.     

Tourette's syndrome and anophthalmia in a girl: complex differential diagnosis

This is a report of a 15 year old girl with anophthalmia who met the DSM-III criteria for Tourette's Syndrome (TS). The case presented a complex differential diagnosis with previous diagnoses of behaviour disorder and schizophrenia, complicated by the issues of blindness, pharmacological, and environmental factors. Once the diagnosis was made, and due to intricate biopsychosocial interactions, a comprehensive treatment approach was adopted with good results. The authors comment on the non-existence of studies about the incidence of TS in blind children and recommend the discrimination between the motor behaviour of the tic disorder versus mannerisms associated with blindness. Thus a reasonable degree of suspicion is warranted in the treatment of blind children with severe behavioural disturbances.     

Kleine-Levin syndrome in a 14-year-old girl: CSF hypocretin-1 measurements

CSF hypocretin-1 measurements were performed during a period of hypersomnia and during an asymptomatic interval in a 14-year-old girl affected with severe Kleine-Levin syndrome. A twofold decrease in hypocretin-1 was evidenced during the period of hypersomnia in comparison with the asymptomatic interval. Together with previous data, this result is in favour of recurrent dysfunction at the hypothalamic level in Kleine-Levin syndrome.     

Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families

Myotonic dystrophy type 2 (DM2) is caused by expansion of a tetranucleotide CCTG repeat in intron 1 of the ZNF9 gene on chromosome 3q21. All studied DM2 mutations have been reported in Caucasians and share an identical haplotype, suggesting a common founder. We identified a Japanese patient with DM2 and showed that the affected haplotype is distinct from the previously identified DM2 haplotype shared among Caucasians. These data strongly suggest that DM2 expansion mutations originate from separate founders in Europe and Japan and are more widely distributed than previously recognized. Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. Saito and Amakusa have contributed equally to the work.     

A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl

Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3?years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation.     

The management of gastric perforation in a girl with Rett syndrome: Report of a case

Introduction: Rett syndrome is a neurologically disorder that affects approximately one in 10,000 females. Case report: A 21-year-old girl with Rett syndrome was hospitalized for abdominal distention and pain. Physical examination revealed abdominal tenderness. Radiology investigation revealed bilateral free air in subdiaphragmatic area. Gastric perforation observed at laparotomy. Primary suturing and omentoplasty were performed. In the follow-up, the symptoms of intestinal obstruction occurred. Conservative treatment failed and second intervention was performed. At laparotomy severe gastric and intestinal dilatation and bowel adhesions were detected. Adhesiolysis, tube gastrostomy, and feeding jejunostomy performed. Discussion: Rett syndrome and associated gastric complications are uncommon. These pathologic disorders may cause gastric, intestinal necrosis, intestinal obstructions. Because of the late occurring of physical findings and insidious presentation of the gastrointestinal perforations in Rett syndrome, physicians should keep in mind this rare entity to reduce morbidity and mortality.     

A Brazilian girl with the Rett syndrome

A Brazilian girl with the Rett syndrome is reported. The criteria for this diagnosis in this case are discussed. This is the first reported case of the Rett syndrome in the Southern Hemisphere.     

Acute shock encephalopathy syndrome in a girl with Sotos syndrome--with special reference to differentiation from Reye syndrome]

We reported here a 5-year-old girl with Sotos syndrome who developed acute shock encephalopathy syndrome (ASES), and differentiated ASES from Reye syndrome (RS). Abrupt onset of shock and status epilepticus developed and these were followed by disseminated intervascular coagulation (DIC) and liver damage. Gradual elevation of hepatic enzymes, high serum bilirubin value, and normal serum ammonia value in acute phase were incompatible with typical RS. Liver histology showed severe, diffuse necrosis of hepatocytes consisting of granular and vacuolar degeneration, which were quite different from those of RS. Thus, the disease process of ASES was shown to be different from those of RS.