Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient

Familial hypocalciuric hypercalcemia （FHH） is caused by inactivating mutations in the calcium-sensing receptor （CaSR） gene. The loss of function of CaSR presents with rickets as the predominant skeletal abnormality in mice, but is rarely reported in humans. Here we report a case of a 16-year-old boy with FHH who presented with skeletal manifestations of rickets. To identify the possible pathogenic mutation, the patient was evaluated clinically, biochemically, and radiographicaUy. The patient and his family members were screened for genetic mutations. Physical examination revealed a pigeon breast deformity and X-ray examinations showed epiphyseal broadening, both of which indicate rickets. Biochemical tests also showed increased parathyroid hormone （PTH）, 1,25-dihydroxyvitamin D, and elevated ionized calcium. Based on these results, a diagnosis of FHH was suspected. Sequence analysis of the patient＇s CaSR gene revealed a new missense mutation （c.2279T 〉 A） in exon 7, leading to the damaging amino change （p.I760N） in the mature CaSR protein, confirming the diagnosis of ~H. Moreover, the skeletal abnormities may be related to but not limited to vitamin D abnormity. Elevated ~H levels and a rapid skeletal growth period in adolescence may have also contributed. Our study revealed that rickets-like features have a tendency to present atypically in FHH patients who have a mild vitamin D deficiency, and that CaSR mutations may have a partial role in the pathogenesis of skeletal deformities.

Inaugural Seizures Revealing COVID-19 in an Immunocompetent Infant at the University Teaching Hospital (UTH) of Bouaké

Introduction: Children are likely to present with atypical and non-specific clinical manifestations of COVID-19, unlike adults. The aim of this observation is to identify the difficulties related to the diagnosis and the curative and preventive management of SARS-CoV-2 infection in children. Observation: This is a 15-month-old infant admitted for febrile seizures. The interrogation revealed signs evolving 48 hours before his admission marked by post-prandial vomiting, wet cough, hypotonia, food refusal, incessant crying, fever, and seizures. His antecedents can be summed up as an uneventful pre- and per-natal period, good eating habits, good psychomotor and staturo-ponderal development, and outdated vaccination. The physical and paraclinical examination made it possible to retain the diagnosis of severe pneumonia. The initial management consisted of oxygenation, hydroelectrolyte intake, antibiotic therapy, and neurosedation. The evolution 3 days later was marked by a worsening of the clinical features, and the hypothesis of infection with SARS-CoV-2 was raised. The nasopharyngeal swab for COVID-19 RT-PCR performed was positive. The infant was isolated in the intensive care unit, where he received oxygen therapy with a mask, enteral nutrition, antibiotic therapy, corticosteroid therapy, and adequate nursing. The evolution was favorable 48 hours later. In addition, his asymptomatic mother and 14-year-old brother were placed in isolation after a positive RT-PCR COVID-19 test. Her father who was very often away from home for professional reasons was negative for COVID-19 RT-PCR. They all four live in the same 3-room house. Conclusion: Childhood COVID-19 has many facets. Clinicians should think about it in the face of any infectious manifestation, in order to avoid delays in treatment and improve the prognosis.

Application Value of Multimodal Magnetic Resonance Imaging in the Diagnosis of Atypical Hepatocellular Carcinoma

Objective This study aims to explore the application value of multimodal magnetic resonance imaging(MRI)in the diagnosis of atypical hepatocellular carcinoma(HCC).Methods 80 patients with atypical HCC who were admitted to our hospital from August 2018 to February 2020 were selected as the research subjects.All patients underwent dynamic computed tomography(CT)enhancement scans,and then multimodal MRI scans,including an MRI plain scan,dynamic contrastenhancement(DCE),and diffusion-weighted imaging(DWI).Then,the image data were analyzed.Results The diagnostic accuracy of the observation group(95.00%)was significantly higher than that of the control group(75.00%).This difference was statistically significant(χ2=6.128,P<0.05).With the increase of the b value,the apparent diffusion coefficient(ADC)values of the liver tissue and liver cancer tissue gradually decreased.Compared with normal liver tissue,the ADC value of liver cancer tissue was significantly lower than that of normal liver tissue(P<0.05).A plain MRI scan of 89 lesions,DCE examination of 93 lesions,(1)7 lesions were slow-rising and fast-falling;(2)72 lesions were fast-rising and fast-falling;(3)10 were platform-type lesions;(4)4 lesions had no enhancement.Conclusion The diagnostic efficiency of a multimodal MRI in the diagnosis of atypical HCC is high,and it has particular clinical application value.

Bites from the same dog,different outcomes for two patients:a case report

Background:Rabies is a serious reemerging zoonosis in China.At present human rabies cases are primarily diagnosed based on clinical presentation.Case presentation:In August 2012,a woman and her son were attacked by a stray dog in Henan,China.The son received rabies postexposure prophylaxis(wound treatment followed by vaccine,no immunoglobulin),however,the mother did not.Rabies infection was subsequently laboratory confirmed in the mother and she died in December;her son is alive and healthy after 2 years of follow-up.Conclusion:This report documents that the timely utilization of postexposure prophylaxis is a required measure in preventing rabies after exposure to an animal bite.