FINCA syndrome

Authors

  • Linta Anna Antony Department of Pediatrics, Pushpagiri Institute of Medical Sciences and Research Centre, Thiruvalla, Kerala, India
  • Carol Sara Cherian Department of Pediatrics, Pushpagiri Institute of Medical Sciences and Research Centre, Thiruvalla, Kerala, India https://orcid.org/0000-0002-8709-1202
  • Jacob Abraham Department of Pediatrics, Pushpagiri Institute of Medical Sciences and Research Centre, Thiruvalla, Kerala, India https://orcid.org/0000-0002-8709-1202

DOI:

https://doi.org/10.18203/2349-3291.ijcp20231855

Keywords:

Cerebropulmonary syndrome, NHLRC2, 0.9% normal saline

Abstract

FINCA (fibrosis, neuro-degeneration, cerebral angiomatosis) syndrome is a rare autosomal recessive early onset fatal disorder characterised by progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infection, chronic haemolytic anaemia and transient liver dysfunction. A 5 year old female baby born as a preterm 33 weeks (2nd twin of dichorionic diamniotic twin) to nonconsanguineous parents via intra-cytoplasmic sperm injection and surrogacy, delivered by emergency caesarean section (indication- pre-eclampsia in mother) with a birth weight of 1.8 kg. She had a stormy neonatal period and had anaemia requiring blood transfusion. Developmental delay was noted from early infancy which was not responding to developmental therapy, along with recurrent episodes of aspiration pneumonia. Her twin on the other hand had normal mile stones without any remarkable medical history. Examination and evaluation revealed features of chronic hemolysis. In view of constellation of developmental delay, recurrent infection, chronic hemolytic anaemia and cerebral atrophy beyond documented perinatal issues and dysmorphism, clinical exome sequencing was done which revealed missense variation in exon of NHLRC2 gene on chromosome 10 suggestive of FINCA syndrome. This case emphasized the need of genetic testing to resolve uncertainty in etiology and accurate prognostication.

References

Uusimaa J, Kaarteenaho R, Paakkola T, Tuominen H, Karjalainen MK, Nadaf J, et al. NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease. Acta Neuropathol. 2018;135(5):727-42.

Li Y, Zhang Y, Jiang G, Wang Y, He C, Zhao X, et al. Case report: novel mutations of NDUFS6 and NHLRC2 genes potentially cause the quick postnatal death of a Chinese Hani minority neonate with mitochondrial complex I deficiency and FINCA syndrome. Medicine (Baltimore). 2022;101(27):e29239.

Biterova E, Ignatyev A, Uusimaa J, Hinttala R, Ruddock LW. Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease. PLoS One. 2018;13(8):e0202391.

Stronka M, Śmigiel R, Rutkowska K, Szymańska K, Hirschfeld AS, Monkiewicz M, et al. FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood. Mol Genet Genomic Med. 2022;10(4):e1899.

Rapp CK, Van Dijck I, Laugwitz L, Boon M, Briassoulis G, Ilia S, et al. Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy. Clin Genet. 2021;100(4):453-61.

Li Y, Zhang Y, Jiang G, Wang Y, He C, Zhao X, et al. Case report: novel mutations of NDUFS6 and NHLRC2 genes potentially cause the quick postnatal death of a Chinese Hani minority neonate with mitochondrial complex I deficiency and FINCA syndrome. Medicine (Baltimore). 2022;101(27):e29239.

Stronka M, Śmigiel R, Rutkowska K, Szymańska K, Hirschfeld AS, Monkiewicz M, et al. FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood. Mol Genet Genomic Med. 2022;10(4):e1899.

Paakkola T, Salokas K, Miinalainen I, Lehtonen S, Manninen A, Kaakinen M, et al. Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease. Hum Mol Genet. 2018;27(24):4288-302.

Brodsky NN, Boyarchuk O, Kovalchuk T, Hariyan T, Rice A, Ji W, et al. Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome. J Hum Genet. 2020;65(10):911-5.

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Published

2023-06-27

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Section

Case Reports