Dr Anakha V Ajay* Dr C Jayakumar * Dr Praveena N Bhaskaran* Dr Navya *(AIMS PEDIATRICS )Dr Sheela Nampoothiri pediatric Geneticist
AIMS KOCHI
Three month old female presented with high pitched cry since birth and swelling in the neck during crying of 2 weeks duration. She was born up for non consanguineous parentage 30 years old father and 29 years old mother . Mother had history of oligohydraminos detected at third trimester. The child was born at 36 weeks via normal vaginal delivery with birth weight of 2.65 kg. Post natally child had poor sucking and lethargy with history of 2-3 episodes of hypoglycaemia. Child also had history of respiratory distress for which she was put on oxygen support for 6 days in NICU. She hasn’t attained social smile yet.She was immunized up to age. On examination child was alert with eye contact present and stable vitals. Head to foot examination revealed microcephaly, dysmorphism, round face, hypertelorism, broad nasal bridge, camptodactyly, low set small ears, b/l epicanthic folds, b/l convergent squint, tiny toe nail and midline neck swelling protruding during crying.
She weighed 4.23kg( below 3rd centile) and her occipito-frontal circumference was 36cm( below 3 rd centile). She had difficulty in taking feeds and a distinctive cat like cry was obvious.
Neurologically she had hypotonia with normal power and brisk reflexes.Other systemic examination was normal .
Labs blood sugar, serum urea , creatinine, liver function, renal function and thyroid function were normal .
Due to high pitched cry and abnormal facies possibility of cri-du-chat syndrome was considered. USG neck showed midline neck swelling was identified as thymus. Bronchoscopy showed short vocal cords with slight difficulty in passing 3.8 mm scope through cords with mild to moderate tracheomalacia. Echo and X-ray wrist with fingers bilateral AP max swallow study were planned, however parents wanted discharge hence could not be done. On further follow up patient was recommended for detailed genetic evaluation
Karyotyping done revealed partial deletion of chromosome 5p[46XX , del(5)] which was suggestive of Cri du chat syndrome.
Differential were
Patau syndrome (Trisomy13)
Wolf Hirsch horn syndrome
Child was on irregular followup and was planed to start on rehabilitation therapy.
Cri du chat syndrome is a genetic disorder caused either a partial or complete deletion of the short arm of chromosome 5. Most deletions occur denovo.The name of syndrome, meaning ‘cat cry’ was coined after the main clinical finding of a high pitched, monochromatic cat like cry.
Most characteristic feature is high pitched cry which is attributable to the anatomical alteration of the larayngeal morphology. Children present with poor weight gain, microcephaly, micrognathia, typical cry, epicanthal folds, large nasal bridge, round face, hypertelorism, down turned corners of mouth, downturned slanting palpebral fissures and low set ears.The condition may be associated with developmental and cognitive delays and poor sensorimotor skills along with cardiovascular, renal gastrointestinal and neurological abnormalities. Karyotyping is the gold standard for diagnosis.Due to early onset of cerebral damage during embryonal development, there is no specific treatment available. Child may benefit from rehabilitation and early intervention with physical therapy, psychomotor and speech therapy.
Prognosis: Morbidity and mortality rates decrease after the first few years of life. 75% of deaths occur during the first month of life. 90% of deaths occur during the first year. One of the most important factors in the prognosis of the disease is early diagnosis, which allows for the implementation of therapeutic measures early on to improve the outcome of physical as well as psychomotor development and helps with social adaptation.
TAKE HOME MESSAGE: The take home message for cri du chat syndrome underscores the importance of multidisciplinary care, early intervention, and ongoing support for individuals and family affected this rare genetic condition. Through tailored therapies and educational strategies, individuals with Cri du chat syndrome can achieve their fullest potential, emphasizing the significance of holistic care and community inclusion
