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Homozygous pArg610del Mutation Unusually Associated With Severe Delay of Growth in 2 Acid Sphingomyelinase Deficiency–affected Sibs

Naifar, Manel MD*; Kallel, Faten MD; HadjKacem, Faten MD, PhD; Boudabous, Hela MD§; Kallel, Rim MD, PhD; Boudawara, Tahia MD, PhD; Messaoud, Olfa PhD; Tbib, Neji MD, PhD§; Charfi, Nadia MD, PhD; Abid, Mohamed MD, PhD; Froissart, Roseline PhD#; Messedi, Sondes Hdiji MD, PhD; Ayedi, Fatma MD, PhD*

Journal of Pediatric Hematology/Oncology: March 11, 2019 - Volume Publish Ahead of Print - Issue - p
doi: 10.1097/MPH.0000000000001447
Clinical and Laboratory Observations: PDF Only

Background: Typically, patients with Acid Sphingomyelinase Deficiency (ASMD) because of p.Arg610del mutation, have mild phenotype with normal linear growth.

Observation: We reported the case of 2 Tunisian brothers who have been referred for splenomegaly, polyadenopathies, pubertal, and growth delay. Molecular testing of SMPD1 gene revealed the presence of a homozygous p.Arg610del mutation. Lysosphingomyelin and its isoform-509 were both increased confirming ASMD for both cases. Growth hormone deficiency was highly suspected but growth hormone response after stimulating tests was acceptable for both patients.

Conclusions: There is no correlation between phenotype-genotype in case of p.Arg610del mutation that could be associated to a severe delay of growth.

*Biochemistry Laboratory, UR12ES17 Sfax Medicine School

Departments of Hematology

Endocrine, Hedi Chaker Hospital

Pathological Laboratory, Habib Bourguiba Hospital, Sfax

§Pediatric Department, La Rabta Hospital

Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar, Tunis, Tunisia

#Service de Biochimie et Biologie Moléculaire Grand Est, Unité Médicale Pathologies Métaboliques, Erythrocytaires et Dépistage Périnatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France

Supported by Sfax Medicine University and UR 12ES17.

The authors declare no conflict of interest.

Reprints: Manel Naifar, MD Biochemistry Laboratory, UR12ES17 Sfax Medical School, Sfax 3029, Tunisia (e-mail:

Received December 14, 2018

Accepted January 15, 2019

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