Phaeochromocytoma is a rare clinical entity in children. Contrary to traditional teaching, which suggested that 10% of phaeochromocytomas are "familial", a germline mutation has been identified in up to 59% (27/48) of apparently sporadic phaeochromocytomas presenting at 18 years or younger and in 70% of those presenting before 10 years of age. The inherited predisposition may be attributable to a germline mutation in the Von Hippel-Lindau gene, the genes encoding the subunits B and D of succinate dehydrogenase, the RET proto-oncogene predisposing to multiple endocrine neoplasia type 2, or the neurofibromatosis type 1 gene. Of these, the Von Hippel-Lindau gene is the most commonly mutated gene in children presenting with a phaeochromocytoma. Genetic counselling is recommended before gene testing and investigation of the wider family. This review provides guidance on the aetiology, investigation, management, histopathology, genetics and follow-up of children with a phaeochromocytoma.
Aim: To draw up recommendations for the investigation and management of children with a microdeletion of chromosome 22q11. Methods: A retrospective review of case notes from patients with a chromosome 22q11 microdeletion identified by cytogenetics laboratories of the south and west of Britain over a four year period. Results: A total of 210 cases were identified. Age at diagnosis was 0-1 years (34%), 1-4 (17%), 5-17 (35%), and 18 years or more (13%). School age children were less likely to be investigated than infants: echocardiography in school age 86% v in infancy 97%, serum calcium 66% v 89%, renal ultrasound scan 38% v 42%, lymphocyte count 26% v 68%, parental karyotype 78% v 88%. The yield of investigations remained high throughout all age groups with 42% of school age children shown to have hypocalcaemia and 25% abnormal findings on renal ultrasound. Conclusions: 22q11 microdeletion is a multisystem disorder requiring a set of core investigations at diagnosis. We recommend an echocardiogram, renal ultrasound scan, lymphocyte count and function, serum calcium, and parental karyotype as a minimum. Genetic counselling and community paediatric input is helpful for most families.T he syndrome of chromosome 22q11 microdeletion includes a number of congenital malformations, which are recognised by paediatric cardiologists and cleft surgeons. Increasingly, milder manifestations are being recognised by general and community paediatricians in the school aged child. Despite a wide phenotype there are certain common aspects, namely congenital heart disease, cleft palate or velopharyngeal insufficiency, hypocalcaemia, renal anomalies, recurrent coughs and colds, learning difficulties, speech delay, and behaviour problems. We decided to systematically review the medical investigation of children of all ages with this syndrome. Our aim was to draw up recommendations to improve and standardise the investigation and management of this group of children. PARTICIPANTS AND METHODSA total of 210 patients with a chromosome 22q11 microdeletion as detected by fluorescent in situ hybridisation by the regional cytogenetics laboratories were included in the study. Standardised retrospective case note review detailed findings in seven areas: cardiac, renal, metabolic, immunological, genetic, palatal, and developmental. RESULTSAge at diagnosis was 0-1 years (34%), 1-4 (17%), 5-17 (35%), and 18 years or more (13%). School age children were less likely to be investigated than infants: echocardiography 86% v 97%, serum calcium 66% v 89%, renal ultrasound scan 38% v 42%, lymphocyte count 26% v 68%, and parental karyotype 78% v 88%. The yield of investigations remained high throughout all age groups, with 42% of those diagnosed at school age found to have hypocalcaemia and 25% abnormal findings on renal ultrasound (see table 1).Forty two per cent of those with documented hypocalcaemia had experienced seizures compared to 11% of those with no evidence of hypocalaemia. The finding of hypocalcaemia in this group appears to be a significant ri...
We describe a brother and sister with Bohring-Opitz syndrome and suggest that autosomal recessive inheritance may occur in this condition.
It has been reported that young children taking beta-blockers may be at risk of hypoglycaemia when fasting. However, hypoglycaemia is not listed as a side effect of beta-blockers in the British National Formulary for Children. We present five patients (out of approximately 570 patients at our institution who were prescribed regular beta-blockers over the same time period) who had severe hypoglycaemic episodes whilst taking beta-blockers for prevention of arrhythmia. We demonstrate how such an episode may be misinterpreted as an arrhythmic event and how this could lead to inappropriate escalation of medical therapy or even implantation of an automatic implantable cardiac defibrillator.
Muir-Torre Syndrome (MTS) is a phenotypic variant of HNPCC traditionally associated with mutations in the mismatch repair genes MLH1 and MSH2. We draw attention to recent reports of MTS found in association with a constitutional MSH6 mutation and describe a further MTS family with a MSH6 mutation, in whom a preponderance of extra-colonic tumours was found.
Predictive BRCA testing is offered to asymptomatic individuals to predict future risk where a variant has been identified in a relative. It is uncertain whether all eligible relatives access testing, and whether this is related to health care inequalities. Our aim was to analyse trends and inequalities in uptake of testing, and identify predictors of testing and time-to-receipt of testing. A database from April 2010 to March 2017 was collated. Multivariate analysis explored individual associations with testing. Predictor variables included gender, BRCA test type, cancer history, Index of Multiple Deprivation (IMD) and education status. To evaluate factors associated with time-to-testing, a Cox proportional-hazards (CP) model was used. Of 779 tests undertaken, 336 (43.1%) were identified with a BRCA variant. A total of 537 (68.9%) were female and in 83.4% (387/464) of probands, predictive testing was received by relatives.Analysis identified inequalities since decreased testing was found when the proband was unaffected by cancer (OR 0.14, 95% CI 0.06-0.33). Median time-to-testing was 390 days (range, 0-7090 days) and the CP model also identified inequalities in the hazard ratio (HR) for testing for people aged >40 was higher than for aged <40 (HR 1.41, 95% CI 1.20-1.67) and BRCA2 testing was higher than for BRCA1 testing (HR 1.39, 95% CI 1.18-1.64). Reduced testing was found when probands were unaffected by cancer and time-to-testing was found to vary by age and BRCA1/2 test. Given limited study sample size, further research is recommended to examine inequalities in predictive BRCA testing.
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