|Year : 2016 | Volume
| Issue : 2 | Page : 241-243
Rett syndrome: A rare case
Deepika Verma, Daniel Saldanha, Aneek Saha, Kushagra Verma
Department of Psychiatry, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth, Pune, Maharashtra, India
|Date of Web Publication||1-Mar-2016|
Flat No. 1102, N-Block, Grevillea, Magarpatta City, Pune - 411 013, Maharashtra
Source of Support: None, Conflict of Interest: None
Rett syndrome (RTT) is rare, affects predominantly female children. It presents as a pervasive developmental disorder with a remarkable behavioral phenotype. The discovery that mutation in methyl-C-phosphate-G-binding protein 2 causes RTT has focused attention to the importance of epigenetic modifications in neuronal function. We report a case of RTT in a 7-year-old female child and use of behavioral techniques and social skill training to control the behavioral symptoms.
Keywords: Methyl-C-phosphate-G-binding protein 2, Rett syndrome, mental retardation
|How to cite this article:|
Verma D, Saldanha D, Saha A, Verma K. Rett syndrome: A rare case. Med J DY Patil Univ 2016;9:241-3
| Introduction|| |
First described in 1966 by an Austrian pediatrician, Andreas Rett, this progressive neurological problem is one of the most frequent causes of mental retardation that affects only girls. Recognized throughout the world, this rare condition has a prevalence of 1 in 15,000 female births.  Rett's syndrome (RTT) is classified separately under the category of pervasive developmental disorders (F 84) in the International Classification of Diseases, Revision 10 (ICD-10), based on coexistence of three groups of features.  Its molecular etiology methyl-C-phosphate-G-binding protein 2 as a cause has focused attention for a possible remedy by the way of genetic modification. ,, RTT manifests gradually after 6-12 months of nearly normal development. A period of developmental stagnation sets in followed by from 12 to 18 months regression in language skill, deceleration of head circumference, the appearance of seizures (in 50% of cases), and the emergence of behavioral changes. Typically, there is an autistic withdrawal accompanied by seizures, stereotypic midline hand movements - Notably hand wringing and sucking, agitation, hyperventilation, and breath holding accompanied by screaming attacks. Then follows a truncal ataxia, hyperreflexia, spasticity, and dystonia leading to severe mental and physical handicap.  Depression and anxiety are frequent with self-injury and panic when threatened. Growth failure is a major aspect of the developmental arrest in RTT. Small hands and feet with a large variability in motor disability are seen. About 80% become severely invalid, more or less completely immobilized. In contrast, 15-20% seems to remain relatively spared through the years and with possibilities to walk and struggle around. Furthermore, the amount of preserved intellectual capacity varies considerably between RTT females independent of aging and motor incapacity. Memorizing and recognizing are the abilities which seem to be spared in many older RTT. They seem to recognize and know but experience extensive difficulties to sort out, integrate, process, and express their "thinking" for communication. Vision, hearing, and smelling are mainly intact. Involvement of the autonomic nervous system in RTT is suggested by the neonatal level of cardiac vagal tone, poor autonomic integration, and multiple breathing dysrythmias (immaturity of medulla) in RTT. The mortality rate in RTT is 1.2% per annum, 48% of deaths occurring in debilitated people, 13% from natural causes, 13% with a history of seizures, and 26% sudden and unexpected. 
| Case Report|| |
A 7-year-old female child from a nonconsanguineous marriage and uncomplicated pregnancy and full term normal delivery presented to tertiary care hospital with a gradual loss of speech, poor social interaction and hand skills, stereotyped movements of the hand and body over a period of 5 years. Her milestones were normal until the age of 2 years when parents noticed her difficulty in walking or running, not able to speak meaningful words or sentences unlike earlier. Lack of attachment with family members, inability to hold, pick, or grasp things in her hands was noticed. Teeth grinding, hand wringing, and clapping were observed. She was unable to indicate her need for daily activities such as the use of toilet and food. She had seizures since the age of 2 years and 6 months. Marked cognitive and communicative delay was noted. Other siblings were normal. A detailed examination showed no eye contact, characteristic stereotyped hand movements, and thumb sucking. Head circumference 48 cm, <3 standard deviation from the mean for her age was recorded (as per the mother, her head circumference had decreased compared to that at birth). Other general and systemic examinations were essentially normal. Hemoglobin, total lymphocyte count, differential leukocyte count, and magnetic resonance imaging (MRI) were within normal limits. Her intelligence quotient (IQ) was in the range of 20-34 (severe mitral regurgitation). Electroencephalography was of primary generalized epilepsy pattern [Figure 1] and [Figure 2]. The genetic mapping could not be done for lack of facilities. A diagnosis of RTT (F84.2) as per ICD-10  criteria was made after a detailed clinical work up to rule out other causes. She was managed with divalproex sodium in the dose of 15 mg/kg/day initially and then increased to 30 mg/kg/day to control seizures. Behavioral modification techniques along with social skill training to teach self-directed activities such as dressing, feeding, and toilet training were imparted. Family members were counseled. Her seizures were controlled and there was marked improvement in her behavior on subsequent reviews.
| Discussion|| |
Although RTT predominantly affects girls, there is evidence that mutation analysis has shed light on the question of boys who developed neonatal encephalopathy and died within 1-2 years of birth. , It has a distinct midline, stereotyped hand movements, and deceleration in head growth, which is not the case in childhood autism and childhood disintegrative disorder. The onset is usually between 6 and 48 months, as compared to Landau-Kleffner syndrome where in the onset is usually at 5-5.5 years of age. Mental retardation is not found in patient with Landau-Kleffner syndrome and the patients usually have a myoclonic type of seizure.
The spectrum of pervasive developmental disorders and conditions associated with a learning disability is wide. This child meets the diagnostic criteria of RTT. She had a small head size with developmental delay, especially of intellectual abilities with severe learning disability in addition to the typical motor features as described for the RTT. Her IQ was in the range of severe mental retardation.
The differential diagnosis is not usually difficult after the age of 4 or 5 years. The similarity with autism is more apparent than real, with most affected girl's showing a level of social interest, communication, and play that is, appropriate to their very low mental age. Despite the commonly held opinion that there is a regression after a period of normal development, it has been reported that the girl with RTT may not be normal at birth.  They tend to have lower birth weights, abnormal hand movements such as twirling of the hands at the sides, tapping the chest, pulling hair or ears as early as 12 months. By 5 years, characteristic hand-wringing, licking, sucking, and biting occur in virtually all children as in this case. There is little doubt that these movements are a direct outcome of the biological basis of RTT.  Furthermore, the hand stereotypies are part of a more general neurodevelopment abnormality, language never progresses beyond the possession of 2 or 3 phrases or words, and there are signs of poor motor development. Gait apraxia may develop some children being unwilling to walk at all and hyperreflexia with sustained ankle clonus can be found. Hyperventilation, breath-holding, bruxism, and tremulousness are all common, but not specific to RTT.  There is no specific treatment for the symptoms of RTT. Many of the drugs used in other conditions have a place in the management of RTT. Physiotherapy and hydrotherapy can greatly help the girls not only by preventing stiffness and deformities in the joints but also by encouraging movement, walking, and toning of the muscles. Lamotrigine has been reported useful in controlling seizures in RTT, and even bad tantrums may improve making the girl happier, more alert, and more able to concentrate. 
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[Figure 1], [Figure 2]