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 Table of Contents  
Year : 2021  |  Volume : 1  |  Issue : 4  |  Page : 250-253

Atypical Mongolian spots in an infant: A harbinger of lysosomal storage disorders

Department of Pediatrics, ESIC Medical College and Hospital, Hyderabad, Telangana, India

Date of Submission15-Jul-2021
Date of Decision26-Oct-2021
Date of Acceptance06-Nov-2021
Date of Web Publication29-Nov-2021

Correspondence Address:
Dr. Navya Sree Manugu
Flat No 403, Elegant Homes, Engineers Enclave, Chandanagar, Hyderabad - 500 050, Telangana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ipcares.ipcares_224_21

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Background: Atypical Mongolian spots are lesions that are aberrant in location (over the abdomen, back, legs, shoulders, or arms), extensive in distribution, persist beyond early infancy, and/or progressively increase in number. These are frequently associated with lysosomal storage disorders or neurocristopathies. Clinical Description: A 4-month-old girl presented with a common cold. Extensive aberrant Mongolian spots over the back, buttocks, lower limbs, and new onset grayish-blue macular spots over the abdomen prompted us to do a detailed evaluation to look for any underlying pathology. Other salient clinical findings included coarse facies, hepatomegaly, absence of significant developmental delay, bilateral macular cherry red spots, and ovoid-shaped vertebral bodies. The clinical phenotype was that of a lysosomal storage disorder possibly GM1 gangliosidosis. This was confirmed by deficient levels of ß-galactosidase. Management: The parents underwent genetic counseling. The infant was enrolled in an early intervention program. By the age of 6 months, the infant had not acquired any new developmental skills and new Mongolian spots did not develop. Subsequently, the family was lost to follow-up. Conclusion: Infants with aberrant Mongolian spots need to undergo an in-depth evaluation to identify underlying systemic disorders, even if they are asymptomatic. Diagnosis helps in providing supportive care to the child, specific therapy (if available) and the option of prenatal diagnosis in subsequent pregnancies.

Keywords: Atypical Mongolian spots, GM1 gangliosidosis, ß-galactosidase enzyme deficiency

How to cite this article:
Gadhiraju MV, Manugu NS, Etikela S, Kodandapani Y. Atypical Mongolian spots in an infant: A harbinger of lysosomal storage disorders. Indian Pediatr Case Rep 2021;1:250-3

How to cite this URL:
Gadhiraju MV, Manugu NS, Etikela S, Kodandapani Y. Atypical Mongolian spots in an infant: A harbinger of lysosomal storage disorders. Indian Pediatr Case Rep [serial online] 2021 [cited 2022 Jan 20];1:250-3. Available from: http://www.ipcares.org/text.asp?2021/1/4/250/331373

Mongolian spots are congenital, hyperpigmented, nonblanching, and predominantly Grayish blue macules with irregular margins that may be observed in infants at birth or during the first few weeks of life.[1] Their typical distribution is over the lumbosacral and gluteal regions. Mongolian spots result from entrapment of melanocytes in the dermis due to arrested transdermal migration that normally occurs from the neural crest to the epidermis during embryogenesis. The lesions start disappearing naturally when these dermal melanocytes start getting enclosed by extracellular fibrous sheath. This starts in utero but is maximal during infancy.[2] Their prevalence varies according to ethnicity; being most common in Asians and Africans (90%–100%) 50% in Hispanics, and 10% in Caucasians.[3] Both sexes are equally affected.

Mongolian spots are considered atypical when they are aberrant in location (i.e., present on the upper back, face, legs, and chest); are extensive (i.e., display a generalized distribution);[4] are persistent (i.e., do not spontaneously disappear, but are present beyond infancy);[5] or are progressive (new lesions continue to appear beyond early infancy.[6] Atypical Mongolian spots have been reported in either lysosomal storage disorders, or neurocristopathies, a group of diseases caused by the abnormal generation, migration, or differentiation of neural crest cells [Table 1].
Table 1: Conditions associated with atypical mongolian spots

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We report an infant with atypical Mongolian spots who was subsequently diagnosed with a lysosomal storage disorder. The infant was apparently asymptomatic, apart from the skin lesions, and was identified incidentally in a routine outpatient visit for some other innocuous complaint.

  Clinical Description Top

A 4-month-old girl presented with cough and coryza for 2 days. There was no respiratory distress, fever, rashes, loose motions, or vomiting. She was feeding well. She was born at term with a birth weight of 2.5 kg and had not required any resuscitation. There was no subsequent history of any hospitalization or outpatient visits besides for immunization. She was second in birth order to parents of third-degree consanguinity. There was no significant family history. The infant had still not achieved head holding, was unable to reach out for objects, could not vocalize, but had achieved social smile at 2 months and was able to recognize her mother. There was no history of loss of any acquired skills, seizures, stiffening or tightness of limbs, visual or hearing impairment.

The infant was active and displayed stable vitals. The weight was 6 kg (50th centile, −0.58 Z score), length 61 cm (between 15th and 50th centiles, −0.54 Z score), and head circumference was 42.5 cm (between 15th and 50th centiles, 1.48 Z score). General physical examination revealed coarse facial features with low set ears and a depressed nasal bridge [Figure 1]. Multiple, large irregularly shaped Mongolian spots were present on her back, buttocks [Figure 2], and ankle (that had apparently been present since birth). Multiple small bluish-green macules [Figure 3] were present on the abdomen and upper limbs (which, according to her mother were of recent onset). Her gums were soft with no lesions. The only salient abdominal finding was firm nontender hepatomegaly with a span of 8 cm. The respiratory and cardiovascular systems were normal. Cranial nerve examination was normal. There were no tone abnormalities, and reflexes were elicited normally. Developmental assessment confirmed partial neck holding, fixation and tracking, recognition of mother, and age-appropriate vision and hearing. The clinical phenotype was that of an infant with coarse facies, no developmental delay, hepatomegaly, atypical Mongolian spots, and a viral upper respiratory tract infection.
Figure 1: Depressed nasal bridge in the index child

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Figure 2: Multiple flat blue Gray ill-defined Mongolian spots involving back and gluteal region (size ranging from 2 cm to 20 cm)

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Figure 3: Multiple flat bluish macules measuring <0.5 cm on the abdomen which appeared 2 months after birth

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Histopathology of the skin lesions showed mild pigmented melanophages scattered in the superficial and mid dermis, confirming Mongolian spots. Conditions presenting with atypical Mongolian spots were considered. The coarse facies prompted us to consider the possibility of lysosomal storage disorders. Ophthalmological examination identified bilateral cherry red spots, narrowing down the differentials to GM1 gangliosidosis, Neimann pick disease, and mucolipidosis. Brain stem-evoked auditory response was normal. Magnetic resonance imaging of the brain was also normal. Urinary glycosaminoglycan testing was negative, excluding mucopolysaccharidosis. The radiograph of the spine demonstrated atypical ovoid shaped thoracic vertebrae. The clinical phenotype of onset of symptoms within 6 months of age, plateauing of development (albeit currently no significant delay or hypotonia), coarse facies, hepatomegaly, cherry red spots, and vertebral anomalies was suggestive of GM1 gangliosidosis. An enzyme assay identified decreased ß-galactosidase levels, thus establishing the diagnosis of infantile onset GM1 gangliosidosis.

Management and outcome

The parents of the child underwent genetic counseling in which they parents were explained about the nature and course of the disease, associated prognosis, and role of prenatal testing in subsequent pregnancies. Although they were advised to get the mutational analysis, it could not be done due to financial constraints. The child was managed conservatively and enrolled in an early intervention program. By the age of 6 months, the infant had not acquired any new developmental skills and new Mongolian spots did not develop. Subsequently, the family was lost to follow-up.

  Discussion Top

Atypical Mongolian spots may be the harbinger of many underlying storage disorders. Nerve growth factor (NGF) is an important factor for the transdermal migration of melanocytes. NGF acts on TrK protein, a tyrosine kinase receptor that is found on melanocytes. The metabolites that accumulate due to enzyme deficiencies in GM1 gangliosidosis and Hurler disease stimulate the activity of NGF by binding to TrK protein and result in the abnormal melanocyte migration.[1]

GM 1 gangliosidosis is a rare autosomal recessive neurodegenerative disorder with an incidence of 1 in 100000–1 in 200000 population.[7] It arises due to deficiency of the enzyme acid ß-galactosidase resulting from biallelic mutations of the GLB1 gene, located on chromosome 3p21.33i. The characteristic clinical features include developmental delay or neuroregression, macular cherry red spots, the hurler phenotype (coarse facial features, organomegaly, and dysostosis). Three forms are recognized; type 1 (infantile), type 2 (juvenile), and type 3 (adult type). The infantile form (as seen in our patient) is the most severe form with only 0.07%–1.3% of normal enzyme activity. It is associated with rapid progression, neuroregression, and death, commonly due to aspiration pneumonia and/or cardiomyopathy.[8] The juvenile form presents between 7 months and 3 years of age and has a relatively slower, although progressive course. Motor problems, muscle weakness, seizures, squint, lethargy, and easy susceptibility to infections are seen. The adult form manifests from 3 years of age to 30 years of age with progressive dementia, parkinsonism, and dystonia.[7] There is no specific management for this disorder, irrespective of subtype.

We have compiled the clinical manifestation of a few infants with GM 1 gangliosidosis who presented with extensive Mongolian spots and coarse facial features, as in our case [Table 2]. Other cutaneous manifestations that have been described in this disorder are angiokeratomas, eczematoid rashes, and ecchymoses, but are rare.[11] They were not seen in this case. This patient highlights the importance of keeping a high index of suspicion of other underlying disorders in patients with atypical Mongolian spots.
Table 2: Infants with GM1 gangliosidosis and atypical Mongolian spots

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Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.


The authors would like to thank Dr M S Latha, Consultant Medical education and Pediatric research for editing the manuscript and Dr M Srinivas, Dean, ESI Medical College and Hospital for his constant support.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Gupta D, Thappa DM. Mongolian spots. Indian J Dermatol Venereol Leprol 2013;79:469-78.  Back to cited text no. 1
[PUBMED]  [Full text]  
Kikuchi I. What is a Mongolian spot? Int J Dermatol 1982;21:131-3.  Back to cited text no. 2
Sud N, Vasani R. Mongolian spots. Indian J PaediatrDermatol 2021;22:141-4.  Back to cited text no. 3
Ashrafi MR, Shabanian R, Mohammadi M, et al. Extensive Mongolian spots: A clinical sign merits special attention. Pediatr Neurol 2006;34:143-5.  Back to cited text no. 4
Hidano A. Persistent Mongolian spot in the adult. Arch Dermatol 1971;103:680-1.  Back to cited text no. 5
Hanson M, Lupski JR, Hicks J, et al. Association of dermal melanocytosis with lysosomal storage disease: Clinical features and hypotheses regarding pathogenesis. Arch Dermatol 2003;139:916-20.  Back to cited text no. 6
Draïss G, Fouad A, Rada N, et al. Infantile GM1-gangliosidosis revealed by slate-grey Mongolian spots. Open Pediatr Med J 2009;9:1-4.  Back to cited text no. 7
Kumar R, Gupta A, Mathur P, et al. Extensive Mongolian spots: A clinical sign merits special attention for gm1 gangliosidosis. Int J Pediatr Res 2016;3:483-6.  Back to cited text no. 8
Bersani G, Guerriero C, Ricci F, et al. Extensive irregular Mongolian blue spots as a clue for GM1 gangliosidosis type 1. J Dtsch Dermatol Ges 2016;14:301-2.  Back to cited text no. 9
Hackbart BA, Arita JH, Pinho RS, et al. Mongolian spots are not always a benign sign. J Pediatr 2013;162:1070.  Back to cited text no. 10
Dweikat I, Libdeh BA, Murrar H, et al. Gm1 gangliosidosis associated with neonatal-onset of diffuse Ecchymoses and Mongolian spots. Indian J Dermatol 2011;56:98-100.  Back to cited text no. 11
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  [Figure 1], [Figure 2], [Figure 3]

  [Table 1], [Table 2]


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