9 research outputs found
Ketone Utilization Disorder and Hypodontia
Hypodontia is defined as the congenital missing of one or more teeth in one or both dentition periods. In this case report, ketone utilization disorder with oro-dental findings was reported which was previously not reported in the literature. It was concluded that dental examination is an important parameter which must be taken into consideration in the future case reports
Diagnostic Dilemma: Osteopetrosis with superimposed rickets causing Neonatal Hypocalcemia
Osteopetrosis is a rare genetic condition of reduced osteoclastic bone
resorption which causes defective bone remodeling and skeletal sclerosis
during growth, having effects on many organs and tissues. Mutation of
T-cell immune regulator 1 (TCRG1) gene is the most common genetic defect
leading to osteopetrosis, with poor prognosis. The autosomal recessive
form presents in the infantile period (also known as malignant infantile
osteopetrosis - MIOP), and is characterized by fractures, short stature,
hepatosplenomegaly, compressive neuropathies, hypocalcemia and
pancytopenia. Being a rare disease with non-specific clinical
manifestations, the diagnosis is difficult and usually delayed. Rickets
is a characteristic feature of MIOP which results from the defect in
osteoclasts to provide a normal Ca/P balance resulting in the poor
mineralization of the osteoid. Various treatment options have been
suggested for osteopetrosis, but hematopoietic stem cell transplantation
still remains the only curative treatment option presently. The authors
report the case of a 46-day-old girl with late-onset neonatal
hypocalcemia and rickets that was later diagnosed as osteopetrosis. This
case report emphasizes that infantile osteopetrosis is an important
cause of neonatal hypocalcemia. As irreversible complications develop
within the first months of life, immediate diagnosis and early
intervention are crucial and may be life-saving