Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report

Table 1

Summary of the key clinical manifestations, onset, severity, treatment, prognosis, and recurrence risks of the main types of osteopetrosis.

	Autosomal recessive osteopetrosis (ARO)
Osteopetrosis subtype				X-linked osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency (OLEDAID)	Intermediate osteopetrosis (IRO)	Autosomal dominant osteopetrosis (Alber’s Schönberg disease)
	Classic	Neuropathic	ARO with RTA
Genetic basis	TCIRG	CLCN7, OSTM1	Carbonic anhydrase II	IKBKG (NEMO)	CLCN7, PLEKHM1	CLCN7
Skeletal manifestations	Increased bone density, diffuse and focal sclerosis of varying severity; Modelling defects at metaphyses; Pathologic fractures; Osteomyelitis; Dental abnormalities: tooth eruption defects and dental caries
Other manifestations	Pancytopenia, extramedullary hematopoiesis, hepatosplenomegaly, cranial nerve compression (II, VII, and VIII), hydrocephalus, and hypocalcemia	As for classic ARO, but primary neurodegeneration, including retinal atrophy	Renal tubular acidosis, developmental delay, intracranial calcification, cranial nerve compression, and rare bone marrow impairement	Anhidrotic ectodermal dysplasia, lymphedema, and immunodeficiency resulting in overwhelming infection	Anaemia and extramedullary hematopoiesis, occasional optic nerve compression	Moderate haematological failure, cranial nerve compression
Onset	Perinatal	Perinatal	Infancy	Infancy	Childhood	Late childhood or adolescence
Severity	Severe	Severe	Moderate	Severe	Mild to moderate	Mild to moderate, occasionally; severe
Treatment	Supportive; HSCT	Supportive	Supportive; May benefit from HSCT	Supportive	Supportive	Supportive
Prognosis	Poor; Fatal in Infancy	Poor; Fatal in Infancy	Variable	Poor; Fatal in early childhood	Variable	Normal life expectancy