Affected children usually present within the first year of life and frequently within the first three months.4 7-9Parental concern regarding the child's vision is the most common presenting complaint. [adc.bmj.com]

One OPTA2 patient displaying life-threatening symptoms died, and the OPTB4 patient presenting a relatively mild clinical course survived. [pubmed.ncbi.nlm.nih.gov]

At follow-up, the patient presented with, thickened calvarium, multiple prominent encephaloceles, and dural calcifications leading to the intracranial clinical manifestations with bilateral hearing and sight loss. [link.springer.com]

The autosomal dominant form is the most common: usually, patients have mild symptoms that present in late childhood to adulthood. [rarediseases.org]

Discussion Malignant infantile osteopetrosis (MIO) Classical clinical presentation of patients is described in the present case: generalized osteosclerosis, cytopenias, lymphadenopathy, or hepatosplenomegaly. [scielo.org.mx]

• Feeding Difficulties

  Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. [malacards.org]

  Feeding difficulties MedGen UID: 65429 •Concept ID: C0232466 • Finding Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. [ncbi.nlm.nih.gov]

• Lymphadenopathy

  Discussion Malignant infantile osteopetrosis (MIO) Classical clinical presentation of patients is described in the present case: generalized osteosclerosis, cytopenias, lymphadenopathy, or hepatosplenomegaly. [scielo.org.mx]

• Splenomegaly

  Splenomegaly MedGen UID: 52469 •Concept ID: C0038002 • Finding Abnormal increased size of the spleen. Optic atrophy MedGen UID: 18180 •Concept ID: C0029124 • Disease or Syndrome Atrophy of the optic nerve. [ncbi.nlm.nih.gov]

  Splenomegaly. Osteomyelitis. RESUMEN La osteopetrosis se caracteriza por un aumento considerable de la densidad ósea que resulta en un remodelado defectuoso, causado por mal funcionamiento de los osteoclastos, de severidad variable. [scielo.isciii.es]

  On examination, the infant was found with hypotonia, abnormal eye movements, depressed nasal bridge, and hepatomegaly without splenomegaly. An abdominal ultrasound measured a normal spleen and an enlarged liver with 345 cc estimated volume. [scielo.org.mx]

• Rhinitis

  Affected individuals may also experience rhinitis, hepatosplenomegaly, anemia and extramedullary hematopoiesis. [rarediseases.org]

• Macrocephaly

  Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. [malacards.org]

  Macrocephaly MedGen UID: 745757 •Concept ID: C2243051 • Finding Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. [ncbi.nlm.nih.gov]

  Macrocephaly and frontal bossing are common, especially in early childhood.31 32 Craniosynostosis may be a problem in both the transplanted and non-transplanted patient. [adc.bmj.com]

  Affected individuals may have an abnormally large head (macrocephaly). [rarediseases.org]

• Osteoporosis

  Osteopetrosis and osteoporosis: two sides of the same coin. Hum Mol Genet. 1999;8:1839-46. [ Links ] 13. Langlais R.P., Langland O.E., Nortje C.J. Generalised radiopacities: osteopetrosis. [scielo.isciii.es]

  National Institute of Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse One AMS Circle Bethesda, MD 20892-3675 USA Phone: (301) 495-4484 Toll-free: (877) 226-4267 Email: [email protected] Website: http://www.niams.nih.gov/ NIH/Osteoporosis [rarediseases.org]

Diagnostic workup required anesthetic procedures for biopsies, bone marrow aspirations, and catheter placements. [scielo.org.mx]

• Enlargement of the Liver

  In addition, abnormal enlargement of the liver and spleen (hepatosplenomegaly); abnormal hardening of some bones (osteosclerosis); fractures, usually of the ribs and long bones; inflammation of the lumbar vertebrae (osteomyelitis); increased density of [rarediseases.org]

Treatment Hematopoietic stem cell transplantation represents the definitive treatment of autosomal recessive MIO. [scielo.org.mx]

BONE MARROW TRANSPLANTATION Bone marrow transplantation is the only treatment that has been proven to significantly alter the course of disease. [adc.bmj.com]

Treatment plan included pre-maxilla sequestrectomy and extraction of erupted upper teeth. Patient was followed for five years with no wound healing (fig. 6). [scielo.isciii.es]

Other treatments are symptomatic and supportive. Genetic counseling is recommended for families in which this disorder occurs. [rarediseases.org]

Osteopetrosis: genetics, treatment and new insights into osteoclast function. Sobacchi C, Schulz A, Coxon FP, Villa A, Helfrich MH. Sobacchi C, et al. Nat Rev Endocrinol. 2013 Sep;9(9):522-36. doi: 10.1038/nrendo.2013.137. Epub 2013 Jul 23. [pubmed.ncbi.nlm.nih.gov]

Further studies of the long term prognosis in this group of children are needed. Reports of adults with autosomal recessive osteopetrosis are rare. [adc.bmj.com]

PMID: 3920916 Prognosis Zirngibl RA, Wang A, Yao Y, Manolson MF, Krueger J, Dupuis L, Mendoza-Londono R, Voronov I J Cell Biochem 2019 Oct;120(10):17180-17193. Epub 2019 May 20 doi: 10.1002/jcb.28979. [ncbi.nlm.nih.gov]

Feeding difficulties Hepatomegaly Abnormality of the eye Optic atrophy Abnormality of the immune system Splenomegaly Abnormality of the musculoskeletal system Facial palsy Frontal bossing Macrocephaly Osteopetrosis Growth abnormality Failure to thrive Etiology [ncbi.nlm.nih.gov]

To date, seven genes at least have independently been linked in the etiology of autosomal recessive osteopetrosis, among which TCIRG1, CLCN7, and OSTM1 have been reported as the most frequently affected. [scielo.org.mx]

No surgical procedure was proven the best to prevent the progression of oral infection taking into account the patient's general condition. [scielo.isciii.es]