Kenny–Caffey syndrome (KCS) type 2 (OMIM 127000) is a rare syndromic cause of hypoparathyroidism which is characterized by proportionate short stature, long bone abnormalities, delayed closure of anterior fontanelle, eye abnormalities, and normal intelligence. It is caused by variants in FAM111A (NM_001942519.1). In this review, we reported the first Chinese patients, a pair of monozygotic twins, with genetically confirmed KCS type 2 with over 20 years follow‐up. We summarized the clinical features of 14 previously reported and genetically confirmed KCS type 2 patients; our twin patients exhibited a unique spinal manifestation which could be an important age‐dependent feature of KCS type 2. In this review, over 60% KCS type 2 patients had dental problem and over 80% suffered from refractive errors or structural eye abnormalities. Therefore, early dental, ophthalmological, and orthopedic assessments are warranted for KCS type 2 patients. Micro‐orchidism, previously reported in KCS type 2 patients, was also detected in our patients. The possibility of subfertility should be considered in male KCS type 2 patients. A multidisciplinary management approach for this rare syndrome is recommended.

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Posterior reversible encephalopathy syndrome (PRES) is a well-documented pathology of the brain in systemic upsets. Majority of PRES cases present with edema in the cerebrum, most commonly in the territory of posterior circulation. It has been reported to show spinal cord involvement in a rare subgroup known as PRES with spinal cord involvement (PRES-SCI), with very limited existing literature even in adult patients. Our institution recently encountered a pediatric case with neurofibromatosis type I (NF 1) showing PRES with extensive reversible spinal cord changes. This case illustrates the features of this rare entity in the pediatric group of patients, and is the first reported case in NF 1 patients.

BackgroundWith the ageing population, osteoporosis is increasingly becoming a global health concern. Previous research showed that management of osteoporosis in Hong Kong had been suboptimal. In view of the need to provide quality care to osteoporotic patients, a Multidisciplinary Osteoporosis Clinic (MOC) organized by primary care physicians was set up in a public primary care clinic. This study aimed to explore the clinical effectiveness of MOC.MethodsWe performed a retrospective case series study. All osteoporotic patients who had attended MOC during the period 1 January 2015 to 31 December 2018 were included. Changes in Dual X-ray absorptiometry (DEXA) T-score of recruited patients after two years of management at MOC were analysed. Subgroup analyses of the 2-year interval DEXA T-score changes among patient with or without history of fragility fracture, and among patients with or without pharmacological treatment , were performed. Serial interval DEXA T-score changes of recruited patients who had completed 5 years of bisphosphonate treatment were also analysed. Paired Student’s t test was used to analyze the interval DEXA T-score changes.ResultsTotally 186 osteoporotic patients were recruited. After two years of management at MOC, the T-score at lumbar spine and femoral neck were improved, from -2.71±0.76 to -2.35±0.83 and -2.40±0.75 to -2.10±0.76 respectively, P<0.001. For subgroup analysis on patients with or without history of fragility fracture and patients with or without bisphosphonate treatment, improvement in T-scores of both lumbar and femoral neck were all significant at two years, P<0.05. Among those who had completed 5 years of bisphosphonate treatment, progressive improvement in T-scores of both lumbar and femoral neck were observed, with P <0.001.ConclusionMOC run by family physicians in public primary care setting could effectively treat osteoporotic patients with significant improvement in DEXA T-scores.