Facial grimacing as a clue for the diagnosis of GM1 type 3 gangliosidosis

Facial grimacing como pista para o diagnóstico de gangliosidose GM1 tipo 3

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Facial grimacing as a clue for the diagnosis of GM1 type 3 gangliosidosis

Facial grimacing como pista para o diagnóstico de gangliosidose GM1 tipo 3

Ricardo Oliveira Horta Maciel^I; José Luiz Pedroso^II; Orlando G.P. Barsottini^III

Ambulatório de Neurologia Geral, Departamento de Neurologia e Neurocirurgia, Universidade Federal de São Paulo, São Paulo SP, Brazil

^{Correspondence}

GM1 Gangliosidosis is an autosomal recessive lysosomal storage disease caused by the deficiency of beta-galactosidase. Only few cases have been reported in the literature, owing to the rarity of the condition but also possibly due to its underrecognition in clinical practice^1,2. Reports of GM1 gangliosidosis type 3 patients and recent literature review shows that oromandibular dystonia producing the aprearance of grimacing is a common feature of this disorder². Herein we describe a patient in wich proeminent facial grimacing served as a clue to the diagnosis of GM1 gangliosidosis type 3. The patients legal guardian gave consent to publish this case.

A 20 year-old female patient had a normal development until the age of 3 years, when the parents noted speech impairment wich worsened to the point of ininteligibility in the following years. With 5 years cognitive deterioration in other areas was noted and the child was never able to attend school. Gait abnormality also developed and by the age 11 she was unable to walk or stand. On examination the patient had short stature and moderate thoracic kyphosis. Tongue and orofacial dystonia where present, giving the appearance of grimacing (Figure). There was also dystonia of the feet, dystonic posturing of the hands while at rest and increased tonus in the legs. No bradykynesia or dysmetria were noted. Strenght was normal with brisk reflexes and flexor plantar responses. There was no corneal clouding. Slit-lamp examination and fundoscopy were normal. Bone radiographies revealed kyphoscoliosis and femoral dysplasia. Routine brain MRI showed T2 hypointensity of the globus pallidus and hydrocephalus caused by a incidental ependimoma of the fourth ventricule. Routine blood and CSF examination were unremarkable. An abdominal ultrasound showed no abnormalities. Beta-glicuronidase, galacto-6-sulphatase and hexosaminidase A (testing for mucopolysaccharidosis IV, VII and Tay-Sachs disease, respectively) were normal. Leukocyte beta-galactosidade activity measured in serum was 5.7 nmol/h/mg (normal range 78-280), confirming the diagnosis of GM1 Gangliosidosis.

Type 3 GM1 gangliosidosis is characterized by onset around the second decade of life with slowly progressive extrapiramidal signs, such as dystonia and parkinsonism¹. There is also a high prevalence of gait disturbance and dysarthria. Other symptoms are short stature, bone abnormalities, cognitive impairment, ataxia and cardiac disorders³. Orofacial dystonia is a common feature of type 3 GM1 gangliosidosis, with a prevalence of 87.5% according to a recent report².

Facial dystonia with proeminent involvement of oromandibular muscles is a frequent manifestation of neuroleptic induced movement disorders^4,5.However, there is also a number of dystonia syndromes in wich proeminet orofacial involvement occur, and their presence should alert the clinician to their possibility (Table).

We suggest that in patients with early-onset dystonia, the occurance of facial grimacing should lead to the consideration of type 3 GM1 gangliosidosis, particularly when associated with speech and cognitive impairment, gait disturbances and bone abnormalities.

Received 1 February 2011.

Accepted 8 February 2011.

• 1. Roze E, Paschke E, Lopez N, et al. Dystonia and parkinsonism in GM1 Type 3 gangliosidosis. Mov Disord 2005;20:1366-1369.
• 2. Muthane U, Chickabasaviah Y, Kaneski C, et al. Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases. Mov Disord 2004;19:1334-1341.
• 3. Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects. Mol Genet Metab 2008;94:391-396.
• 4. Tan E-K, Jankovic J.Tardive and idiopathic oromandibular dystonia: a clinical comparison J Neurol Neurosurg Psychiatry 2000;68:186-190.
• 5. Balasubramaniam R, Saravanan R. Orofacial movement disorders. Oral Maxillofac Surg Clin North Am 2008;20:273-285.

Publication Dates

• Publication in this collection
  20 May 2011
• Date of issue
  2011