PubMed · 4804352
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C C Schulman. [Simple bilateral ureteral ectopy (without duplication)].. https://pubmed.ncbi.nlm.nih.gov/4804352/
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Satoyoshi syndrome (OMIM 600705) is a rare disorder of unknown cause characterized by progressive painful intermittent muscle spasms, amenorrhea, alopecia, malabsorption, and skeletal abnormalities mimicking a skeletal dysplasia. In this report, we describe a Caucasian 12-year-old girl that presented with characteristic manifestations, including alopecia, muscle cramps, and short stature with onset at age 7. Prednisone 60 mg/m(2) every other day and amytriptiline 25 mg QD were administered. After 2 months, alopecia had significantly improved and muscle cramps had almost disappeared, so that glucocorticoid treatment was tapered. Follow-up, 9 months later, showed a normal looking and asymptomatic girl.
In 1987, Ritscher et al. described two sisters with brain malformations of the posterior fossa, congenital heart defects, and similar craniofacial dysmorphisms. Subsequently, more than 20 cases have been reported and the syndrome became known as 3C (cranio-cerebello-cardiac) or Ritscher-Schinzel syndrome. The majority of patients were younger than six years of age at the time of observation. Here we present a follow-up study of one of the two sisters described by Ritscher et al. in 1987. At 21 years of age she is the oldest patient reported to date. We delineate growth, intellectual development, and evolution of her congenital developmental defects. We also provide evidence that the originally reported immune deficiency in this patient is not a primary B-cell defect but a secondary loss of IgG via the gastrointestinal system.
To describe clinical and neurodevelopmental phenotypes of Costello syndrome, we performed a retrospective review of the clinical records and findings in 10 children with Costello syndrome. All patients showed significant postnatal growth retardation and severe feeding difficulties leading to failure to thrive from early infancy. All required tube feeding and some needed high-calorie formulas for variable periods. Developmental quotients/IQs in seven children were 50 or less, and three were in the mildly retarded range. Five had seizures. Remarkable manifestations not previously reported were the characteristic behavior in infancy. Although happy and sociable personality was always emphasized in the genetic literature, all children showed significant irritability, including hypersensitivity to sound and tactile stimuli, sleep disturbance, and excess shyness with strangers in infancy. Those symptoms usually disappeared around age 2-4 years. Other clinical signs included cardiac abnormalities (8), musculoskeletal abnormalities (10), ophthalmological manifestations (5), increased urinary vanillymandelic acid (VMA) and homovanillic acid (HVA) (3), rhabdomyosarcoma (1), laryngomalacia (1), and cryptorchidism (1). Only three girls had papillomata. Family histories were negative for Costello syndrome. In conclusion, we confirm the wide spectrum of mental function in patients with Costello syndrome, which ranges from severe to mild. During infancy Costello syndrome showed remarkable irritability with severe feeding problems, which attributes significant difficulties to the parents of affected children.