Balkan Journal of Medical Genetics

GALACTOSIALIDOSIS IN A NEWBORN WITH A NOVEL MUTATION IN THE CTSA GENE PRESENTING WITH TRANSIENT HYPERPARATHYROIDISM
Okulu E1,*, Tunc G1, Eminoglu T2, Erdeve O1, Atasay B1, Arsan S1
*Corresponding Author: Emel Okulu, M.D., Department of Pediatrics, Division of Neonatology, Ankara University School of Medicine, Tip Fakultesi Street, 06620 Mamak, Ankara, Turkey. Tel: +90-312-595-6599. Fax: +90-312-319-1440. E-mail: emelokulu@gmail.com
page: 95

DISCUSSION

Galactosialidosis is an autosomal recessive transmitted lysosomal storage disease due to a defect of the protective protein. The protective protein forms a complex with β-galactosidase and α-neuraminidase, and protects these enzymes against excessive proteolytic degradation. Several mutations of the gene encoding this protein have been reported [1-4]. We herein present a newborn infant case with galactosialidosis and transient hyperparathyroidism due to a novel mutation. There are three phenotypic types of galactosialiodosis that are characterized by the age of onset and clinical symptoms. Early infantile onset is characterized by hydrops fetalis, oedema, organomegaly, coarse facial features, cardiomyopathy, ocular abnormalities, skeletal dysplasia, mental retardion and early death. The late infantile form presents with organomegaly, cardiac involvement and skeletal dysplasia without neurological symptoms. The juvenile/adult form is mainly characterized by neurological signs, skin involvement and long survival. The early infantile form is the most severe form, which may also appear as non immune hydrops fetalis. Specific therapy for galactosialidosis is not available at present [1,5,6]. Our case was the early infantile form presenting with coarse face, organomegaly, seizure, cardiac and ocular abnormalites, and her parents had consanguinity with a history of an in utero exitus with hydrops fetalis at 26 weeks’ gestation. The CTSA gene encoding the protective protein has been localized on chromosome 20q13.1. Mutations of this gene are the cause of galactosialidosis resulting in the loss of function of protective protein [1,3,7]. A novel homozygous CTSA gene mutation at p.F191Pfs*39 (c.569_570 delTT) that gave rise to a frameshift and premature termination codon was defined in our patient. Primary and secondary hyperparathyroidism are both rare disorders in the neonatal period. Previous reports of neonates and infants with mucolipidosis type II and sialidosis type II have described radiological and biochemical abnormalities compatible with hyperparathyroidism [8-10]. It has been suggested that hyperparathyroidism in these patients can be related to impaired transplacental calcium transport or tissue hypersensitivity to circulating PTH [9-12]. However, the case presented here is the first patient with galactosialidosis exhibiting transient neonatal hyper-parathyroidism. The patient had increased serum PTH and ALP activity, decreased serum phosphorus and calcium, but normal 25(OH)D levels. Secondary hyperparathyroidism persisted in contrast to oral supplemental support up to 5 months of age. We conclude that galactosialidosis is similar to mucopolysaccharidosis type IV, sialidosis, mucolipidosis type 2, GM1 gangliosidosis should be kept in mind in the presence of coarse facial features in a newborn with organomegaly and hyperparathyroidism. To define the relation on novel mutations and new manifestations, more genetic and clinical investigations of the disease are needed.

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