DOI: https://dx.doi.org/10.18203/2349-3291.ijcp20221866
Published: 2022-07-25

Congenital methemoglobinemia masquerading as spastic diplegic cerebral palsy

Rahul Sinha, Sonali Singh, Gautam Kamila, Ankit Meena

Abstract


Congenital methemoglobinemia is an autosomal recessive condition resulting from deficiency of methemoglobin reductase which is caused by homozygous or compound heterozygous mutation in the CYB5R3 gene on chromosome 22q13, manifesting clinically by decreased oxygen carrying capacity of the blood, with resultant cyanosis and hypoxia. The clinical features include microcephaly, developmental delay, spasticity and myelination defects, seizures, feeding difficulties. Methemoglobinemia is an abnormal increase of MetHb (>3%) of total haemoglobin which can be either hereditary and acquired. The acquired methemoglobinemia is mostly due to anaesthetic drugs and genetic one is due to deficiency of CYB5R3 or cytochrome B5 systems. The type I congenital methemoglobinemia is more common and less severe and is caused by CYB5R functional deficiency in red blood cells compared to type II which is more severe and less frequent and CYB5R deficiency is present in all cells. Sometimes it might mimic as static insult sequalae in the form of spastic diplegia. Here we reported an 8-month-old female with spastic diplegia with recurrent episodes of bluish discoloration later found to have autosomal recessive congenital methemoglobinemia.

 


Keywords


Congenital, Methemoglobinemia, Spastic, Cyanosis, Microcephaly

Full Text:

PDF

References


Jaffe ER. Hereditary methemoglobinemias associated with abnormalities in the metabolism of erythrocytes. Am J Med. 1966;41:786-98.

Percy MJ, Lappin TR. Recessive congenital methaemoglobinaemia: Cytochrome b5reductase deficiency. Br J Haematol. 2008;141:298-308.

Toelle SP, Boltshauser E, Mossner E. Severe neurological impairment in hereditary methaemoglobinaemia type 2. Eur J Pediatr. 2004;163:207-9.

Ewenczyk C, Leroux A, Roubergue A. Recessive hereditary methaemoglobinaemia, type II: Delineation of the clinical spectrum. Brain. 2008;131:760-71.

Toobiak S, Sher EA, Shaklai M, Shaklai N. Precise quantification of haemoglobin in erythroid precursors and plasma. Int J Lab Hematol. 2011;33:645-50.

Panin G, Pernechele M, Giurioli R. Cytochrome b5 reductase activity in erythrocytes and leukocytes as related to sex and age. Clin Chem. 1984;30:701-3.

Trapp L, Will J. Acquired methemoglobinemia revisited. Dent Clin North Am. 2010;54:665-75.

Aalfs CM, Salieb-Beugelaar GB, Wanders RJ, Manneens MM, Wijburg FA. A case of methemoglobinemia type II due to NADH cytochrome b5 reductase deficiency: Determination of the molecular basis. Hum Mutat. 2000;16:18-22

Lehnert W, Ruitenbeek W. Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency. J Inher Metab Dis. 1993;16:557-9.

Schiemsky T, Penders J, Kieffer D. Failing blood gas measurement due to methemoglobin forming hemoglobin variants: a case report and review of the literature. Acta Clin Belg. 2016;71:167-70.

Wright RO, Lewander WJ, Woolf AD. Methemoglobinemia: Etiology, pharmacology, and clinical management. Ann Emerg Med. 1999;34:646-56.