Malignant infantile osteopetrosis: A rare cause of refractory hypocalcemia
Background: Infantile malignant osteopetrosis (IMO) is a rare autosomal recessive disease characterized by a higher bone density in bone marrow caused by the dysfunction of bone resorption. Clinical Description: A 2-month-old baby boy presented with features of lower respiratory tract infection, alo...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Indian Pediatrics Case Reports |
| Subjects: | |
| Online Access: | http://www.ipcares.org/article.asp?issn=2772-5170;year=2023;volume=3;issue=4;spage=229;epage=233;aulast= |
| _version_ | 1797245352100757504 |
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| author | Niraj Kumar Dipak Nadia Shagufta |
| author_facet | Niraj Kumar Dipak Nadia Shagufta |
| author_sort | Niraj Kumar Dipak |
| collection | DOAJ |
| description | Background: Infantile malignant osteopetrosis (IMO) is a rare autosomal recessive disease characterized by a higher bone density in bone marrow caused by the dysfunction of bone resorption. Clinical Description: A 2-month-old baby boy presented with features of lower respiratory tract infection, along with a swollen right upper arm due to fracture of humerus, along with signs of bicytopenia and hepatosplenomegaly. He had a history of hypocalcemic seizures at 8th day of life. Management and Outcome: Current hospitalization revealed refractory hypocalcemia and hypophosphatemia with normal to increased Vitamin D and parathormone levels and increased density of bone. Hypocalcemia was particularly refractory in nature needing multiple intravenous calcium corrections. Whole exome sequencing detected compound heterozygous variants in the T-cell immune regulator 1 pathogenic gene of IMO. Simultaneously, a heterozygous nonsense variation in exon 4 of the CHRNA4 gene was detected causing nocturnal frontal lobe epilepsy. As the infant had evidence of bone marrow failure, he was considered and referred for hematopoietic stem cell transplantation. Conclusion: Neonatal and early infantile hypocalcemia are commonly seen by pediatricians, but an etiology of IMO is rarely considered. The presence of fracture of long bones with cytopenias and hepatosplenomegaly in a young infant with recurrent hypocalcemia, without Vitamin D deficiency, should raise suspicion of this disorder and genetic analysis should be carried out for the same. |
| first_indexed | 2024-04-24T19:25:32Z |
| format | Article |
| id | doaj.art-a551b8bd4d814d75ba3b0a8be9e6c0ae |
| institution | Directory Open Access Journal |
| issn | 2772-5170 2772-5189 |
| language | English |
| last_indexed | 2024-04-24T19:25:32Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Pediatrics Case Reports |
| spelling | doaj.art-a551b8bd4d814d75ba3b0a8be9e6c0ae2024-03-25T15:40:00ZengWolters Kluwer Medknow PublicationsIndian Pediatrics Case Reports2772-51702772-51892023-01-013422923310.4103/ipcares.ipcares_70_23Malignant infantile osteopetrosis: A rare cause of refractory hypocalcemiaNiraj Kumar DipakNadia ShaguftaBackground: Infantile malignant osteopetrosis (IMO) is a rare autosomal recessive disease characterized by a higher bone density in bone marrow caused by the dysfunction of bone resorption. Clinical Description: A 2-month-old baby boy presented with features of lower respiratory tract infection, along with a swollen right upper arm due to fracture of humerus, along with signs of bicytopenia and hepatosplenomegaly. He had a history of hypocalcemic seizures at 8th day of life. Management and Outcome: Current hospitalization revealed refractory hypocalcemia and hypophosphatemia with normal to increased Vitamin D and parathormone levels and increased density of bone. Hypocalcemia was particularly refractory in nature needing multiple intravenous calcium corrections. Whole exome sequencing detected compound heterozygous variants in the T-cell immune regulator 1 pathogenic gene of IMO. Simultaneously, a heterozygous nonsense variation in exon 4 of the CHRNA4 gene was detected causing nocturnal frontal lobe epilepsy. As the infant had evidence of bone marrow failure, he was considered and referred for hematopoietic stem cell transplantation. Conclusion: Neonatal and early infantile hypocalcemia are commonly seen by pediatricians, but an etiology of IMO is rarely considered. The presence of fracture of long bones with cytopenias and hepatosplenomegaly in a young infant with recurrent hypocalcemia, without Vitamin D deficiency, should raise suspicion of this disorder and genetic analysis should be carried out for the same.http://www.ipcares.org/article.asp?issn=2772-5170;year=2023;volume=3;issue=4;spage=229;epage=233;aulast=fracturehepatosplenomegalyhypocalcemic seizurest-cell immune regulator 1 gene |
| spellingShingle | Niraj Kumar Dipak Nadia Shagufta Malignant infantile osteopetrosis: A rare cause of refractory hypocalcemia Indian Pediatrics Case Reports fracture hepatosplenomegaly hypocalcemic seizures t-cell immune regulator 1 gene |
| title | Malignant infantile osteopetrosis: A rare cause of refractory hypocalcemia |
| title_full | Malignant infantile osteopetrosis: A rare cause of refractory hypocalcemia |
| title_fullStr | Malignant infantile osteopetrosis: A rare cause of refractory hypocalcemia |
| title_full_unstemmed | Malignant infantile osteopetrosis: A rare cause of refractory hypocalcemia |
| title_short | Malignant infantile osteopetrosis: A rare cause of refractory hypocalcemia |
| title_sort | malignant infantile osteopetrosis a rare cause of refractory hypocalcemia |
| topic | fracture hepatosplenomegaly hypocalcemic seizures t-cell immune regulator 1 gene |
| url | http://www.ipcares.org/article.asp?issn=2772-5170;year=2023;volume=3;issue=4;spage=229;epage=233;aulast= |
| work_keys_str_mv | AT nirajkumardipak malignantinfantileosteopetrosisararecauseofrefractoryhypocalcemia AT nadiashagufta malignantinfantileosteopetrosisararecauseofrefractoryhypocalcemia |