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1.
Horm Metab Res ; 55(10): 653-664, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37813097

RESUMEN

X-linked hypophosphatemia (XLH) associated with short stature during childhood are mostly referred to the hospital and diagnosed as vitamin D deficiency rickets and received vitamin D before adulthood. A case is presented with clinical features of hypophosphatemia from childhood who did not seek medical care for diagnosis and treatment, nor did his mother or two brothers, who have short statures, bone pain, and fractures. The patient was assessed for sociodemographic, hematological, and biochemical parameters together with a genetic assessment. A DEXA scan and X-ray were done to determine the abnormalities and deformities of joints and bones despite clinical examination by an expert physician. All imaging, laboratory parameters, and the genetic study confirmed the diagnosis of XLH. A detailed follow-up of his condition was performed after the use of phosphate tablets and other treatments. X-linked hypophosphatemia needs a good assessment, care, and follow up through a complementary medical team including several specialties. Phosphate tablets in adulthood significantly affects clinical and physical improvement and prevention of further skeletal abnormality and burden on daily activity. The patients should be maintained with an adequate dose of phosphate for better patient compliance. More awareness is needed in society and for health professionals when conducting medical checkups during the presence of stress fractures, frequent dental and gum problems, rickets, short stature, or abnormality in the skeleton or walking to think of secondary causes such as hypophosphatemia. Further investigations including a visit to a specialist is imperative to check for the primary cause of these disturbances.


Asunto(s)
Raquitismo Hipofosfatémico Familiar , Hipofosfatemia , Adulto , Humanos , Masculino , Huesos , Raquitismo Hipofosfatémico Familiar/diagnóstico , Raquitismo Hipofosfatémico Familiar/genética , Raquitismo Hipofosfatémico Familiar/tratamiento farmacológico , Hipofosfatemia/complicaciones , Hipofosfatemia/tratamiento farmacológico , Hipofosfatemia/genética , Fosfatos/uso terapéutico , Vitamina D/uso terapéutico
2.
Ann Med Surg (Lond) ; 69: 102749, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34457267

RESUMEN

INTRODUCTION: Coronavirus disease 2019 (COVID-19) has emerged as severe acute respiratory syndrome coronavirus 2 (SARS-CoV2). Recently, various complications have been reported. The aim of the current study is to report a rare case of transverse myelitis after recovering from COVID-19. CASE REPORT: A 34-year-old lady, presented with inability to walk for one day duration due to the lower limb weakness. After two weeks from the recovery of COVID-19; she developed progressive intermittent leg pain, paresthesia and weakness on both sides. Brain and cervical MRI showed evidence of a short segment inflammatory enhancing lesion at upper cervical region (at C1 level). The patient was treated conservatively. DISCUSSION: Transverse myelitis has many different causes, it occurs as an autoimmune phenomenon post-infection and vaccination, or it may result from direct infection or acquired demyelinating disease like multiple sclerosis. CONCLUSION: Although it is a sporadic finding, SARS-CoV-2 can cause transverse myelitis. The condition responds to medical therapy.

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