Cardiomyopathy in infants is characterized by heart failure in apparently normal children without previous organic cardiac lesions. Cardiomyopathy has been found to comprise four types. Rickets is common in Saudi Arabia, that is why I reviewed this subject. Recently this case with classical features of rickets being admitted in a serious state we thought of publishing it. The infant responded well to treatment and full recovery was achieved. Follow up biochemistry, radiology cardiac function completely recovered and bony abnormalities showed evidence of healing. This case might have been missed as respiratory infection. We recommend meticulous look for biochemical features of rickets in infants admitted with respiratory symptoms.
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http://dx.doi.org/10.1016/j.jsha.2016.05.001 | DOI Listing |
Rev Med Chil
September 2024
Hospital de Niños Dr. Roberto del Río, Santiago, Chile.
Hereditary tyrosinemia type 1 (HT-1) is an inborn error of metabolism caused by a defect in tyrosine (tyr) degradation. This defect results in the accumulation of succinylacetone (SA), causing liver failure with a high risk of hepatocarcinoma and kidney injury, leading in turn to Fanconi syndrome with urine loss of phosphate and secondary hypophosphatemic rickets (HR). HT-1 diagnosis is usually made in infants with acute or chronic liver failure or by neonatal screening programs.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Neurology, King George's Medical University, Lucknow, Uttar Pradesh, India
Wilson's disease is a metabolic disorder affecting the liver, brain, skin and osteo-muscular organs. Refractory rickets is an unusual phenomenon in Wilson's disease. This 27-year-old man was primarily treated for rickets for 20 years without success and later developed features of tremulousness of limbs and dysphonia when he was evaluated for Wilson's disease.
View Article and Find Full Text PDFRev Med Chil
May 2024
Departamento de Nefrología, Clínica Dávila, Santiago, Chile.
BMC Mol Cell Biol
January 2025
Department of Stomatology, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, 150001, China.
Background: Inactivation or mutations of FAM20C causes human Raine Syndrome, which manifests as lethal osteosclerosis bone dysplasia or non-lethal hypophosphatemia rickets. However, it is only hypophosphatemia rickets that was reported in the mice with Fam20c deletion or mutations. To further investigate the local and global impacts of Fam20c mutation, we constructed a knock-in allele carrying Fam20c mutation (D446N) found in the non-lethal Raine Syndrome.
View Article and Find Full Text PDFPediatr Dermatol
December 2024
Paediatric Endocrinology Division, Department of Paediatrics, Christian Medical College Vellore, Vellore, Tamil Nadu, India.
Vitamin D-dependent rickets type 2A (VDDR2A) is a rare cause of infantile-onset alopecia, characterized by severe hypotrichosis, small cutaneous cysts, early-onset treatment-resistant rickets, and hypocalcemia. Alopecia, often starting a few weeks to months after birth, may be the presenting feature. We present three cases of VDDR2A with genetic variants in the vitamin D receptor (VDR) gene, their clinical features and biochemical parameters.
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