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Recent experience with Rett syndrome at a tertiary care center

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					Case Report


Recent experience with Rett syndrome at a tertiary care center

S. Kumar, M. Alexander, C. Gnanamuthu
Department of Neurological Sciences, Christian Medical College, Vellore - 632004, India.




 Rett syndrome (RS), a neurological developmental disor-                        and Witt-Engerstrom.6 The clinical characteristics are summarized
                                                                                in Table 1. All children had uneventful antenatal and perinatal peri-
 der, is one of the commonest causes of cognitive impair-
                                                                                ods and a period of normal development, ranging from the first seven
 ment in girls and women. These patients are often initially
                                                                                to 18 months. During the period of normal development, three chil-
 misdiagnosed as idiopathic mental retardation, cerebral                        dren were able to walk without support. They also attained a vo-
 palsy, or autism. Despite several reports from the West, there                 cabulary of 8-10 words. Family history was negative in all.
 are very few reports from the Indian population. We present                      Later in the course of illness, the complaints were an inability to
 four female children with RS and emphasize the importance                      use hands for purposeful movements, social withdrawal, problems
 of early diagnosis.                                                            with communication and regression of acquired motor and language
                                                                                skills. They had marked communication problems and the vocabu-
 Key Words: Rett syndrome, Mental retardation, Clinical di-
                                                                                lary regressed to one-two words in three children and four-six words
 agnosis.                                                                       in one. They had difficulty in comprehending spoken language but
                                                                                could respond to loud noise and bright light. Stereotypic hand move-
                                                                                ments were noted in all the children. The stereotypic movements
                                                                                included beating hands on the abdomen in one (Case 1), repeated
                           Introduction                                         closing and opening of hands in one (Case 2), slapping own face with
                                                                                hands and wringing movements in one (Case 3) and repeated inap-
                                                                                propriate hand clapping in one (Case 4). Gait problems, apraxia,
  Rett syndrome (RS), one of the commonest causes of pro-
                                                                                was noted in all the children. One child (Case 1) had mild swaying to
found cognitive impairment in girls and women, was first rec-                   either side, whereas 2 children (Cases 2 and 3) had broad-based
ognized in the 1960s and the first report form India was in                     unsteady gait with repeated falls. One child (Case 4) had an unusual
1994.1 Though RS has a prevalence of 1 per 10000 to 1 per                       way of turning to one side before getting up from the squatting posi-
22000,2 in India it is confined to very few case reports.3-4 Prob-              tion to avoid falling. Side-to-side ‘rocking’ was seen in two children
ably, this may be related to underdiagnosis of the condition or                 (Cases 1 and 2). All children had cognitive impairment and had no
misdiagnosis of these children as cerebral palsy1 or autism.                    bowel and bladder control. Two patients had history of seizures. One
The current report summarizes our recent experience with                        child (Case 1) had myoclonic jerks whereas another child (Case 4)
                                                                                had generalized tonic-clonic seizures. Two patients had bruxism. One
RS and discusses the clinical diagnosis.
                                                                                patient had hearing loss.
                                                                                  Three children (Cases 1, 2, and 3) had microcephaly. Weight and
                           Case Report                                          height were below the 50th percentile in all the four children. None
                                                                                had any dysmorphic features. Muscle wasting and hypotonia was
  Retrospective review of the case records of inpatients in the neu-            noted in one child and one child had spasticity.
rology wards during the period 2001-2002, identified four female                  Brain CT was normal in three children, in Case 2 MRI showed
children with RS. The mean age at presentation was 33 months (23-               frontal lobe atrophy and thinning of the anterior corpus callosum.
42 months). Diagnosis was based on the criteria proposed by Hagberg             EEG was abnormal in all the four children (multifocal epileptiform

                                Table I: Clinical characteristics of patients with Rett syndrome in our series
Sr. No.     Age        Normal development           Small head          Stereotypic                ‘Rocking’            Communication        Cognitive
           (mon)          till (months)               size            hand movements           trunk movements           dysfunction        regression
1.           35                 18                      +                    +                         +                      +                  +
2.           42                 17                      +                    +                         +                      +                  +
3.           23                  7                      +                    +                         -                      +                  +
4.           33                 13                      -                    +                         -                      +                  +



Sudhir Kumar
Consultant Neurologist, Department of Neurological Sciences, Christian Medical College Hospital, Vellore - 632004, Tamilnadu, India.
E-mail: drsudhirkumar@yahoo.com


494                                                                                                           Neurology India December 2004 Vol 52 Issue 4
494 CMYK
                                                                                                                        Kumar S, et al: Rett syndrome


activity in Cases 1 and 3 and focal epileptiform discharges in Cases   abnormalities are reported in almost all cases and findings
2 and 4). CSF analysis including measles antibody titer was normal.    vary with the age of the patient and the clinical stages of RS.2
Genetic analysis was not performed in our cases.                       EEG was abnormal in all our cases.
                                                                         Rett syndrome is a genetic disorder transmitted in an X-
                           Discussion                                  linked dominant fashion, 99% of the cases are sporadic, and
                                                                       familial recurrence is seen in less than 1%.3 Mutations in the
   Rett syndrome is characterized by profound cognitive im-            MECP2 gene, located in the region Xq28, have been identi-
pairment, problems with communication, stereotypic hand                fied in 70-80% of patients.12 Genetic studies are not essential
movements, and pervasive growth failure that follow a nor-             for diagnosis in the majority, children with mild or atypical
mal period of development during the first six to 18 months of         symptoms may require molecular genetic studies. Angelman
life.2 Diagnosis of RS is based on clinical criteria,5 as only 70-     syndrome and RS may have phenotypic and EEG similari-
80% of patients with typical RS phenotype have mutations in            ties. In such cases molecular genetic studies may differenti-
the RS gene. Our patients fulfilled all the essential and exclu-       ate the disorders.
sion criteria. Supportive criteria noted in our patients were            Treatment is symptomatic and supportive. Long-term man-
bruxism (50% of patients) and growth retardation (100% of              agement involves physical and occupational therapy, speech
patients).                                                             therapy, nutritional support, seizure control and orthopedic
   Clinical features of RS are classified into four stages.6 First     intervention. Patients need scoliosis surveillance and surgery
stage is the stagnation period with onset between six and 18           is recommended when the curve passes 40 degrees, which is
months of age. It lasts for weeks to months and is character-          associated with good outcome.13 Feeding problems may ben-
ized by developmental delay without regression. Second stage           efit with changing the food texture and may require alternate
starts between one and four years of age and is characterized          routes of feeding in some cases.
by regression of motor and language milestones. Stage Three              In conclusion, RS is probably underdiagnosed in our coun-
or pseudostationary stage may last for several decades and is          try and should be suspected in appropriate clinical situations
seen in girls with preserved ambulation. Communication may             as the diagnosis can be made clinically. It should be differen-
even improve but the motor functions worsen. Stage four is             tiated from cerebral palsy and autism, as the therapeutic ap-
characterized by loss of ambulation. The transition from one           proach and outcomes differ.
stage to the next does not occur abruptly. All our cases were
seen in the first two stages.                                                                          References
   Seizures have been reported in 30-94% of patients with RS.
In a series of 53 females with RS, 94% had a history of epi-           1.    Kalra V, Sud DT. Rett syndrome. Indian Pediatr 1994;31:711-5.
                                                                       2.    Jellinger KA. Rett Syndrome - an update. J Neural Transm 2003;110:681-701.
lepsy, focal epilepsy being twice as common as generalized.7           3.    Banapurmath CR, Anees S. Rett syndrome-familial recurrence. Indian J Pediatr
The mean age of onset of epilepsy was significantly higher as                1995;62:499-502.
                                                                       4.    Malhotra S, Kumar D, Gupta N. Rett’s syndrome - a neurodevelopmental dis-
compared to the onset of cognitive impairment (4 years ver-                  order: Report of two cases. Neurol India 2002;50:330-3.
sus 0.8 years). Two of our patients had epilepsy. Bruxism is           5.    Hagberg B, Hanefeld F, Percy A, Skjeldal O. An update on clinically applicable
                                                                             diagnostic criteria in Rett syndrome. Eur J Paediatr Neurol 2002;6:293-7.
one of the most common manifestations in RS.8 The preva-               6.    Hagberg B, Witt-Engerstrom I. Rett syndrome: A suggested staging system
lence of sensorineural and conductive hearing loss was reported              for describing impairment profile with increasing age towards adolescence. Am
                                                                             J Med Genet Suppl 1986;1:47-59.
in 17% and 10% respectively.9 Bruxism was seen in two and              7.    Steffenburg U, Hagberg G, Hagberg B. Epilepsy in a representative series of
hearing loss in one of our patients.                                         Rett syndrome. Acta Paediatr 2001;90:34-9.
                                                                       8.    Magalhaes MH, Kawamura JY, Araujo LC. General and oral characteristics in
   Rett syndrome is commonly misdiagnosed as cerebral palsy.1                Rett syndrome. Spec Care Dentist 2002;22:147-50.
Clinical features distinctive for RS, however, include normal          9.    Pillion JP, Rawool VW, Bibat G, Naidu S. Prevalence of hearing loss in Rett
                                                                             syndrome. Dev Med Child Neurol 2003;45:338-43.
antenatal and perinatal periods, a normal period of develop-           10.   Mount RH, Charman T, Hastings RP, Reilly S, Cass H. Features of autism in
ment for the first 6-18 months of life and regression of ac-                 Rett syndrome and severe mental retardation. J Autism Dev Disord
                                                                             2003;33:435-42.
quired milestones. RS is also misdiagnosed as autism. Autis-           11.   Naidu S, Kaufmann WE, Abrams MT, Pearlson GD, Lanham DC, Fredericksen
tic children lack social skills and prefer objects to people,                KA, et al. Neuroimaging studies in Rett syndrome. Brain Dev 2001;23:S62-71.
                                                                       12.   Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett
whereas RS girls prefer affection and company of people.10                   syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-
Though autistic features may be present initially in RS, they                binding protein 2. Nat Genet 1999;23:185-8.
                                                                       13.   Kerr AM, Webb P, Prescott RJ, Milne Y. Results of surgery for scoliosis in Rett
tend to decline with age.                                                    syndrome. J Child Neurol 2003;18:703-8.
   Neuroimaging studies in RS have shown generalized cer-
ebral atrophy predominantly affecting the frontal lobes.11 EEG         Accepted on 31.01.2004.




Neurology India December 2004 Vol 52 Issue 4                                                                                                            495

                                                                                                                                              CMYK 495

				
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