Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Nov 22;9(11):e05122.
doi: 10.1002/ccr3.5122. eCollection 2021 Nov.

A 1-year and 4-month-old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia

Solomie Jebessa Deribessa  1 , Mekdes Endale Bisrat  1 , Zewdu Terefework  2 , Shane C Quinonez  3
Affiliations
Case Reports

A 1-year and 4-month-old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia

Solomie Jebessa Deribessa et al. Clin Case Rep. .

Abstract

Mucopolysaccharidoses (MPSs) are a class of lysosomal storage disorders resulting in progressive disease manifestations and are caused by pathogenic variants in genes coding for enzymes needed to degrade glycosaminoglycans. While most of the seven MPSs are autosomal recessive disorders, MPS II, also known as Hunter syndrome, is inherited in an X-linked recessive manner and is the most common MPS. Here, we report a 1-year and 4-month-old boy who presented with delayed developmental milestones, back deformity, and left scrotal swelling noticed by parents at one year of age. He has coarse facial appearance with macrocephaly, widened wrists, congenital dermal melanocytosis on his back, kyphotic deformity in the thoracolumbar area and left-sided inguinal hernia all consistent with a suspected MPS II diagnosis. The MPS II diagnosis was subsequently confirmed with genetic testing of the IDS gene. To our knowledge, this is the first case of MPS II reported from Ethiopia. This case shows the importance of early clinical recognition of genetic conditions and the utility of genetic testing for confirmation. The diagnosis provided important surveillance and natural history information for the patient's providers and family.

Keywords: Hunter syndrome; glycosaminoglycans; iduronate‐2‐sulfatase; mucopolysaccharidosis.

PubMed Disclaimer

Conflict of interest statement

The authors do not have any conflict of interest.

Figures

FIGURE 1
FIGURE 1
Supine Picture of the proband: coarse facial appearance, prominent forehead, flat nasal bridge, widened wrists, and left inguinal hernia
FIGURE 2
FIGURE 2
Right lateral picture of the proband: Kyphotic bulge on his lower back, macular skin lesions over lower 2/3 of his back and congenital dermal melanocytosis over the buttocks
FIGURE 3
FIGURE 3
Hyperpigmented macular lesions over the left side of the proband's face and left hand
FIGURE 4
FIGURE 4
Thoracolumbar X‐ray of the proband showing normal bone mineral density with 17 degree dextroscoliosis from T4 to T11 and kyphosis of the lumbar vertebrae at L1‐3. There was also hypoplasia of the L2 vertebral body with grade one retrospondylolisthesis, cortical discontinuity of the pedicle of L2 vertebra noted as well as irregularity of the L2 vertebra. MRI (not indicated here) showed anterior irregular beaking of the L2 vertebra, narrow L1‐L2 intervertebral disc space
FIGURE 5
FIGURE 5
Thoracolumbar X‐ray of the proband showing normal bone mineral density with 17 degree dextroscoliosis from T4 to T11 and kyphosis of the lumbar vertebrae at L1‐3. There was also hypoplasia of the L2 vertebral body with grade one retrospondylolisthesis, cortical discontinuity of the pedicle of L2 vertebra noted as well as irregularity of the L2 vertebra. MRI (not indicated here) showed anterior irregular beaking of the L2 vertebra, narrow L1‐L2 intervertebral disc space
FIGURE 6
FIGURE 6
Right and left wrist X‐rays of the proband: showed decreased bone mineralization with cupping and fraying over the distal ulnar and radial metaphysis of both bones
FIGURE 7
FIGURE 7
Skull X‐ray of the proband reported as normal
FIGURE 8
FIGURE 8
Capillary electrophoresis pattern obtained from MLPA results using IDS kit P164 from the proband. The location of the absent peaks indicating deletions (184nt for (exon 7), 256nt (exon3), 276nt (exon4), 310nt (exon5), and 328nt for (Exon6) genes) are indicated by arrows
FIGURE 9
FIGURE 9
Capillary electrophoresis pattern obtained from MLPA results using IDS kit P164 on maternal DNA. The location of the peaks indicating heterozygous deletions (184nt for (exon 7), 256nt (exon3), 276nt (exon4), 310nt (exon5), and 328nt for (Exon6) genes) are indicated by arrows
FIGURE 10
FIGURE 10
Capillary electrophoresis pattern obtained from MLPA results using mitochondrial kit P125 on DNA from the proband. The location of the absent peaks (142nt for RNR1, and 178nt, 202nt, and 226nt for RNR2 genes) are indicated by arrows
FIGURE 11
FIGURE 11
Capillary electrophoresis pattern obtained from MLPA results using mitochondrial kit P125 on maternal DNA. The location of the absent peaks (142nt for RNR1, and 178nt, 202nt, and 226nt for RNR2 genes) are indicated by arrows
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Jürgen W S. Mucopolysaccharidoses. In: Robert M K, Joseph W st G, Nathan J B, Samir S S, Robert C T, Karen M W, Richard E B, eds. Nelson Text Book of Pediatrics. Elsevier; 2016: 1551‐1552.
    1. Guillén‐Navarro E, Domingo‐Jiménez M, Alcalde‐Martín C, et al. Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross‐sectional study. Orphanet J Rare Dis. 2013;8(1):92. - PMC - PubMed
    1. Khan SA, Peracha H, Ballhausen D, et al. Epidemiology of mucopolysaccharidoses. Mol Genet Metab. 2017;121(3):227‐240. doi: 10.1016/j.ymgme.2017.05.016 - DOI - PMC - PubMed
    1. Germaine LD. Hunter syndrome (mucopolysaccharidosis type II): background, pathophysiology, epidemiology. EMedicine, 4 2018, emedicine.medscape.com/article/944723‐overview#:~:text=In%201917%20at%20.... Accessed February 5, 2021.
    1. Burton BK, Jego V, Mikl J, Jones SA. Survival in idursulfase‐treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis. 2017;40(6):867‐874. - PubMed

Publication types

LinkOut - more resources