|Ahead of print
Eyeing the spots and the spot in the eye: GM1 gangliosidosis
Madhusudan Samprathi1, Sujata Saraogi2, Subhashree Kar3, Rashmi Ranjan Das4
1 Department of Pediatrics, Rainbow Children’s Hospital, Bengaluru, Karnataka, India
2 Department of Pediatrics, Fakir Mohan Medical College, Balasore, Odisha, India
3 Department of Pediatrics, SCB Medical College, Sardar Vallab Bhai Postgraduate Institute of Pediatrics, Cuttack, Odisha, India
4 Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Bhubaneswar, Odisha, India
|Date of Submission||30-Jun-2020|
|Date of Acceptance||03-Oct-2020|
|Date of Web Publication||12-Jul-2021|
Department of Pediatrics, Rainbow Children’s Hospital, Bannerghatta Road, Bengaluru 560076, Karnataka.
Source of Support: None, Conflict of Interest: None
| Abstract|| |
A meticulous clinical examination is indispensable in the diagnosis of neurometabolic disorders. We describe an 11-month-old girl with the classical “Hurler phenotype” who was referred to us with a diagnosis of mucopolysaccharidosis. But on “eyeing” the extensive Mongolian spots on the back and the cherry red spot in the eye, GM1 gangliosidosis were suspected and confirmed by enzyme assay. Examination of the fundus and the presence of extensive Mongolian spots can provide valuable clues to the diagnosis of metabolic disorders.
Keywords: Dysostosis multiplex, GM1 gangliosidosis, Hurler phenotype, Mongolian spots, mucopolysaccharidosis
An 11-month-old girl, born of a nonconsanguineous marriage, presented with global developmental delay, impaired vision and hearing, and progressive abdominal distension from early infancy. She had a coarse facies with frontal bossing, hypertelorism, depressed nasal bridge, low set ears, and a long philtrum characteristic of the “Hurler phenotype” Figure 1]A]. She had hepatosplenomegaly, lumbar kyphosis, and extensive Mongolian spots on the trunk [[Figure 1]B]. She had generalized hypotonia and depressed deep tendon reflexes. Fundus examination showed a cherry-red spot. X-ray showed spatula-shaped ribs [[Figure 2]A] and anterior beaking of the vertebrae [[Figure 2]B], typical of “dysostosis multiplex” described with mucopolysaccharidosis (MPS).
|Figure 1: Hurler phenotype showing coarse facies with frontal bossing, hypertelorism, depressed nasal bridge, low set ears, and a long philtrum (A) and extensive Mongolian spots on the trunk (B)|
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|Figure 2: Chest X-ray showing wide, spatula-shaped ribs (A), and X-ray of the spine showing anterior beaking of the vertebrae (arrows in B)|
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Several features are odd for various types of MPS (absence of corneal clouding for type I, presence of visceromegaly and dysostosis multiplex for III, presence of delayed mental milestones for types IV and VI and being a girl child for II, which is X-linked recessive). Presence of the cherry-red spot is unusual for MPS. Other diseases with “Hurler phenotype” are mucolipidoses, sphingolipidoses (GM1 gangliosidosis and galactosialidosis), and oligosaccharidoses. Of these, cherry-red spot and extensive Mongolian spots are described in GM1 gangliosidosis.,,
Beta-galactosidase was deficient –0.18 nmol/h/mg (normal: 80–120), confirming the diagnosis of GM1 gangliosidosis. To conclude, all children with “Hurler phenotype” are not necessarily “Hurler syndrome” or MPS. Examination of the fundus is indispensable when evaluating children with developmental delay. Extensive Mongolian spots can be a clue to an underlying metabolic disease.
We would like to thank Dr. Ashwin Dalal, Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad, for performing the enzyme assay for beta-galactosidase.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]