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Year : 2011  |  Volume : 56  |  Issue : 1  |  Page : 98-100
GM1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots

Department of Pediatric, Makassed Hospital, Jerusalem, Israel

Date of Web Publication10-Mar-2011

Correspondence Address:
Imad Dweikat
Metabolic Unit, Pediatric Department, Makassed Hospital, Jerusalem
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0019-5154.77567

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A 7-month old girl with GM1 gangliosidosis type 1 manifested with diffuse ecchymosis and Mongolian spots. The cutaneous lesions were present at birth before the appearance of the other features of the disease. We postulate that dermal pigmentation may be recognized as an early sign of GM1 gangliosidosis.

Keywords: GM1 gangliosidosis, ecchymoses, Mongolian spots

How to cite this article:
Dweikat I, Libdeh BA, Murrar H, Khalil S, Maraqa N. GM1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots. Indian J Dermatol 2011;56:98-100

How to cite this URL:
Dweikat I, Libdeh BA, Murrar H, Khalil S, Maraqa N. GM1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots. Indian J Dermatol [serial online] 2011 [cited 2023 Dec 1];56:98-100. Available from:

   Introduction Top

GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by deficiency of the lysosomal hydrolase, acid beta-galactosidase. The infantile form (type 1) is characterized by progressive organomegaly, dysostosis multiplex, facial coarsening, and progressive neurologic deterioration within the first year of life. A variety of cutaneous signs have been described in children with GM1 gangliosidosis. We describe an infant with GM1 gangliosidosis associated with diffuse ecchymosis and Mongolian spots on the trunk and extremities with ventral and dorsal distribution.

   Case Report Top

A 7-month-old girl was born to consanguineous Palestinian parents (i.e., first cousins) at term by cesarean section delivery due to fetal distress. At age of 2 weeks, she developed clonic seizures of upper and lower limbs. She was put on valproic acid when she was 2 months old. She was unable to sit, roll over, crawl, laugh or smile on social contact. She also had marked growth delay: weight 4 kg (-4 SD) and occipitofrontal circumference 40 cm (-2.5 SD). Her examination revealed generalized hypotonia, gingival hypertrophy, coarse facial features, diffuse ecchymosis and numerous diffuse Mongolian spots on her trunk and extremities [Figure 1],[Figure 2],[Figure 3]. Ophthalmologic exam showed bilateral macular cherry red spots. Enzyme assay in leukocytes confirmed deficiency of acid beta-galactosidase.
Figure 1: Numerous, diffuse ecchymoses and Mongolian spots on ventral surface of the trunk

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Figure 2: Numerous, diffuse ecchymoses and Mongolian spots on dorsal surface of the trunk

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Figure 3: Coarse facial features

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The hyperpigmented skin lesions were apparent at birth and had not changed in number, position or size. A skin biopsy revealed dermal dendritic melanocytes (consistent with Mongolian spots) and also perivascular accumulation of foamy histiocytes (usually associated with storage disease).

The patient lacked any history of bleeding tendency and her platelet count, prothrombin time, partial thromboplastin time, bleeding time and fibrinogen level were all normal. Her electroencephalogram revealed irregular slow activity with occasional bursts and spikes of slow waves in a depressed background.

   Discussion Top

Clinical and biochemical evidence supported the diagnosis of GM1 gangliosidosis type 1 in our patient. She had numerous and diffusely distributed hyperpigmented lesions which is an unusual presentation for typical Mongolian spots. She also had diffuse ecchymosis without an obvious cause.

Dermatologic findings are not commonly described in GM1 gangliosidosis. Eczematoid facial rash, truncal macular rash, angiokeratomas and generalized telangiectasia, in patients with this illness, have been sporadically described in the literature. [1],[2],[3],[4] However, diffuse, extensive and unusual Mongolian spots have been reported in increasing number of cases of GM1 gangliosidosis type 1 in recent years. [5],[6],[7] [Table 1] summarizes the reported cutaneous findings in these patients. This association has also been described with other lysosomal storage diseases such as Hurler's and Hunter's syndromes. [11],[12]
Table 1: Cutaneous findings reported in children with GM1 gangliosidosis

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Weissbluth et al. reported the first case of possible chance association between GM1 gangliosidosis type 1 and extensive Mongolian spots in a 5-month-old female. [5] Selsor et al. reported a 10-month-old male with GM1 gangliosidosis type 1 who also had hyperpigmented macules and patches which were most probably Mongolian spots. [6] Beattie et al. described a 5-month-old female with GM1 gangliosidosis who had unusual Mongolian blue spots on her dorsal and central trunk. [7] Tang et al. presented a 13-month old child with GM1 gangliosidosis who had multiple Mongolian spots and further demonstrated swelling of the endothelial cells of the dermal capillaries with narrowing of the vascular lumen. The authors postulated that this may lead to weakening and dilatation of the vascular walls resulting in angiokeratoma and telangiectasia in these patients. [8] Hanson et al. described two infants with extensive dermal melanocytosis in association with GM1 gangliosidosis type 1 in one and with Hurler's syndrome in the other. They hypothesized that the accumulating metabolites in these illnesses may contribute indirectly to the arrest of the transdermal migration of melanocytes within the dermis leading to the appearance of these cutaneous findings. This may occur through interference with neural growth factor and tyrosine kinase-type receptor interactions. [11] Ochiai et al. described seven Japanese boys with Hunter's syndrome and reported extensive Mongolian spots in all of them; the authors suggested that the extent and persistence of the hyperpigmentation could allow earlier diagnosis and possible intervention before irreversible nervous system impairment develops. [12]

   Conclusions Top

Although a chance association of the dermal findings and GM1 gangliosidosis cannot be excluded, we think our patient adds to the increasingly recognized evidence that patients with this disorder may manifest abnormal dermal pigmentary lesions, which may be present at birth thus helping physicians make an earlier diagnosis. Whether the ecchymosis in our patient is incidental or part of the dermal endothelial vasculopathy associated with GM1 gangliosidosis and other lysosomal storage diseases needs to be investigated further. We are not aware of this association in the literature and its significance in the diagnosis is not yet clear.

   References Top

1.Landing BH, Silverman FN, Craig GM, Jacoby MD, Lahey ME, Chadwick DL. Familial neurovisceral lipidosis. Am J Dis Child 1964;108:503-22.  Back to cited text no. 1
2.Hooft C, Senesael L, Delbeke MJ, Kint J, Dacremont G. The Gm1 gangliosidosis (Landing disease). Eur Neurol 1969;2:225-41.  Back to cited text no. 2
3.Ginsburg CM, Long CG. GM1 gangliosidosis type 1 in twins. J Med Genet 1977;14:132-4.  Back to cited text no. 3
4.Beratis N, Varvarigou-Frimas A, Beratis S, Sklower S. Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1. Clin Genet 1989;36:59-64.  Back to cited text no. 4
5.Weissbluth M, Esterly NB, Caro WA. Report of an infant with GM1 gangliosidosis type I and extensive and unusual mongolian spots. Br J Dermatol 1981;104:195-200.  Back to cited text no. 5
6.Selsor LC, Lesher JL Jr. Hyperpigmented macules and patches in a patient with GM1 type 1 gangliosidosis. J Am Acad Dermatol 1989;20:878-82.  Back to cited text no. 6
7.Beattie RM, Harvey D. Extensive and unusual Mongolian blue spots in a child with GM 1 gangliosidosis type one. J R Soc Med 1992;85:574-5.  Back to cited text no. 7
8.Tang TT, Esterly NB, Lubinsky MS, Oechler HW, Harb JM, Franciosi RA. GM1-gangliosidosis type 1 involving the cutaneous vascular endothelial cells in a black infant with multiple ectopic mongolian spots. Acta Derm Venereol 1993;73:412-5.  Back to cited text no. 8
9.Silengo M, Battistoni G, Spada M. Is there a relationship between extensive Mongolian spots and inborn error of metabolism? Am J Med genet 1999;87:276-7  Back to cited text no. 9
10.Ashrafi MR, Shabanian R, Mohammadi M, Kavusi S. Pediatr Neurol 2006;34:143-5.  Back to cited text no. 10
11.Hanson M, Lupski JR, Hicks J, Metry D. Association of dermal melanocytosis with Lysosomal storage disease. Arch Dermatol 2003;139:916-20.  Back to cited text no. 11
12.Ochiai T, Ito K, Okada T, Chin M, Shichino H, Mugishima H. Significance of extensive Mongolian spots in Hunter's syndrome. Br J Dermatol 2003;148:1173-8.  Back to cited text no. 12


  [Figure 1], [Figure 2], [Figure 3]

  [Table 1]

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