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Segawa Syndrome - A Family Case Report

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Segawa Syndrome - A Family Case Report

Karuna Thapar, Krishan Kumar, Ira Dhawan, Manu Sharma.
Department of Pediatrics, Government Medical College, Amritsar, Punjab, India.
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Thapar K, Kumar K, Dhawan I, Sharma M. SEGAWA SYNDROME - A FAMILY CASE REPORT. Pediatr Oncall J. 2014;11: 21. doi: 10.7199/ped.oncall.2014.10

Address for Correspondence
Karuna Thapar, 9 -A Krishna square, Near Shivala Bhaiyan, Amritsar 143001.
 
Email
Kthapar2000@gmail.com
 
Keywords
segawa syndrome, levodopa, spasticity
 
Segawa syndrome is a rare genetic disorder characterized by an uncoordinated or clumsy manner of walking. Symptoms of Segawa syndrome usually become apparent around six years of age. Intelligence is not affected. (1) Mutations in several genes have been shown to cause dopamine-responsive dystonia. (2) The symptoms worsen during the course of the day and with increasing age until the third decade of life.(3) Other names of Segawa syndrome are Tyrosine Hydroxylase Deficient-Dopa - Responsive Dystonia (T-H deficient DRD), Tyrosine Hydroxylase deficiency.(4) Family of four children suffering from this syndrome is being reported. The index case is a 10 years old male child who presented with complaints of inability to stand and walk along with spasticity increasing progressively. Higher functions were normal. On examination, weight was 12 kg (< 3rd percentile), height was 105 cm (< 3rd percentile). Intelligence was normal. On central nervous system examination, he had dysarthria, cogwheel rigidity, brisk deep tendon reflexes with clonus. Scissoring was present. Other systems were normal. Routine cerebrospinal fluid (CSF) analysis was normal. CSF neurotransmitter dopamine 16 pg/ml (normal 30- 160 pg/mL)and biopterin13.5uM (19.2 - 22.0uM) were low.A phenylalanine loading test was done and phe/tyr (phenylalanine/tyrosine) ratio was 5.25 after 4 hours(normal 2.4 to 14.74). MRI of brain was normal. Diagnosis of Segawa syndrome was made. Siblings were also noted to be suffering from same disorder. (Table 1) All children were put on levodopa. Three years follow up revealed full recovery on drug. Whenever L-dopa is withdrawn, condition worsens, so medication is regular.

Table 1: Details of each sibling
CASEAGE/SEXAGE OF ONSETCOMPLAINTSDEVELOPMENTCNS EXAMI NATION
2nd6 years/ male4 yearsSimilar to index caseNormal for ageSimilar to index case with normal reflexes
3rd4 years/ female2 yearsSame as index case with deviation of neck towards right side with bruxismNormal for ageSimilar to index case
4th2 years/ female2 yearsAbnormal movements of all the limbsNormal for ageNormal


Dopa-responsive dystonia (DRD) is a genetically heterogeneous syndrome that typically presents in children as leg dystonia and parkinsonism. Similar to juvenile-onset Parkinson disease, dopa-responsive dystonia is due to dopamine depletion, but unlike Parkinson disease, dopamine deficiency arises secondary to a defect in neurotransmitter synthesis rather than a loss of dopaminergic neurons. It responds dramatically to low-dose levodopa therapy, independent of patient age or disease duration.Clinical features, and response to levodopa have remained the diagnostic gold standard for DRD.(5) CSF biopterin (measured after chemical oxidation of BH4) and neopterin are also markers for autosomal dominant DRD, and both are decreased in manifesting and non-manifesting gene carriers.Our patient also had a lower CSF biopterin levels. We report a family of Segawa syndrome for its rarity.
 
Funding
None
 
Conflict of Interest
None
 
References :
  1. SEGAWA Syndrome. Available on URL: http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1212/viewFullReport. Accessed on 13th September 2013.
  2. Segawa Syndrome. Available on URL: https://www.counsyl.com/diseases/segawa-syndrome/. Accessed on 13th September 2013.
  3. Autosomal Dominant Dopa-responsive Dystonia- Segawa's Syndrome. Available from URL: http://medicine.utah.edu/neurology/research/pediatric-motor-disorders/neurotransmitter-deficiency-disorders/normals.php#segawa. Accessed on 13th September 2013.
  4. Johnston MV. Encephalopathies. In: Kliegman RM, Stanton BF, St Gemell JW, Schor NF (eds). Nelson's textbook of pediatrics. 17th ed. New Delhi. Elsevier. 2004.p 2022-3.
  5. Bandmann O, Daniel S, Marsden CD, Wood NW, Harding AE. The GTP-cyclohydrolase I gene in atypical parkinsonian patients:a clinico-genetic study.J Neurol Sci. 1996;141(1-2):27-32.  [CrossRef]

Last Updated : 01 January 2014 Vol 11 Issue 1 Art #10

DOI No : https://doi.org/10.7199/ped.oncall.2014.10

Cite this article as: :
Thapar K, Kumar K, Dhawan I, Sharma M. SEGAWA SYNDROME - A FAMILY CASE REPORT. Pediatr Oncall J. 2014;11: 21. doi: 10.7199/ped.oncall.2014.10
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