Slipped Capital Femoral Epiphysis. A Report of 4 Cases Occurring in One Family

We describe slipped capital femoral epiphysis in 4 members of a black, obese family, who were all first-degree relatives. The aetiology of slipped capital femoral epiphysis is unknown, although it is thought to be multifactorial. Genetic predisposition and environmental factors have been associated with the condition. A familial incidence with at least two cases in the same family has been reported. In epidemiological studies, this incidence ranges from 3% to 35%. Our cases were investigated in an attempt to find a possible aetiological genetic factor. A genetic predisposition with an autosomal dominant pattern of transmission is suggested, although environmental variables must be considered as provocative factors.

Primary Disorders of Neurotransmitter Metabolism: Experience of a Tertiary Center

Neurotransmitter diseases are a group of inherited disorders attributable to a disturbance of neurotransmitter metabolism. Biogenic amines are neurotransmitters with multiple roles including psychomotor function, hormone secretion, cardiovascular, respiratory and gastrointestinal control, sleep mechanisms, body temperature and pain. Given the multiple functions of monoamines, disorders of their metabolism comprise a wide spectrum of manifestations, with motor dysfunction being the most prominent clinical feature. Methods: Case review of 12 patients from 4 families, with primary disorders of biogenic amine metabolism. Results: Aromatic L-amino acid decarboxylase deficiency (4 patients from 2 families), and GTP-cyclohydrolase (8 patients from 2 families) were the two diseases identified. Age at first symptoms varied between 2 months and 6 years. Developmental delay was present in all cases except 2 patients with GTP cyclohydrolase deficiency. The combination of axial hypotonia and limb dystonia was also frequent. Children with aromatic L-amino acid decarboxylase deficiency exhibited temperature instability, oculogyric crisis and disturbances of sleep. The index case of one family with GTP cyclohydrolase deficiency presented with Parkinsonism (bradykinesia, rigidity and hypomimia). Analysis of neurotransmitters and their metabolites in CSF was crucial for the identification of index cases. Response to therapy was variable but in general unsatisfactory except in a family with GTP cyclohydrolase deficiency. Conclusions: These disorders should be considered in the differential diagnosis of paediatric neurodegenerative diseases, in order to allow an adequate therapeutic trial that can favor prognosis.

Adequate Seal and No Endoleak on the First Postoperative Computed Tomography Angiography as Criteria for No Additional Imaging Up to 5 Years after Endovascular Aneurysm Repair

OBJECTIVE: Intensive image surveillance after endovascular aneurysm repair is generally recommended due to continued risk of complications. However, patients at lower risk may not benefit from this strategy. We evaluated the predictive value of the first postoperative computed tomography angiography (CTA) characteristics for aneurysm-related adverse events as a means of patient selection for risk-adapted surveillance. METHODS: All patients treated with the Low-Permeability Excluder Endoprosthesis (W. L. Gore & Assoc, Flagstaff, Ariz) at a tertiary institution from 2004 to 2011 were included. First postoperative CTAs were analyzed for the presence of endoleaks, endograft kinking, distance from the lowermost renal artery to the start of the endograft, and for proximal and distal sealing length using center lumen line reconstructions. The primary end point was freedom from aneurysm-related adverse events. Multivariable Cox regression was used to test postoperative CTA characteristics as independent risk factors, which were subsequently used as selection criteria for low-risk and high-risk groups. Estimates for freedom from adverse events were obtained using Kaplan-Meier survival curves. RESULTS: Included were 131 patients. The median follow-up was 4.1 years (interquartile range, 2.1-6.1). During this period, 30 patients (23%) sustained aneurysm-related adverse events. Seal length <10 mm and presence of endoleak were significant risk factors for this end point. Patients were subsequently categorized as low-risk (proximal and distal seal length ≥10 mm and no endoleak, n = 62) or high-risk (seal length <10 mm or presence of endoleak, or both; n = 69). During follow-up, four low-risk patients (3%) and 26 high-risk patients (19%) sustained events (P < .001). Four secondary interventions were required in three low-risk patients, and 31 secondary interventions in 23 high-risk patients. Sac growth was observed in two low-risk patients and in 15 high-risk patients. The 5-year estimates for freedom from aneurysm-related adverse events were 98% for the low-risk group and 52% for the high-risk group. For each diagnosis, 81.7 image examinations were necessary in the low-risk group and 8.2 in the high-risk group. CONCLUSIONS: Our results suggest that the first postoperative CTA provides important information for risk stratification after endovascular aneurysm repair when the Excluder endoprosthesis is used. In patients with adequate seal and no endoleaks, the risk of aneurysm-related adverse events was significantly reduced, resulting in a large number of unnecessary image examinations. Adjusting the imaging protocol beyond 30 days and up to 5 years, based on individual patients' risk, may result in a more efficient and rational postoperative surveillance.