CLINICAL ASPECTS OF THE NEUROLOGICAL EFFECTS OF THE 18Q- SYNDROME ON A CHILD
INTRODUCTION: The 18q- syndrome is a rare condition and due to its extreme low occurrences, it can often be mistaken by other similar disorders. This syndrome is caused by the deletion of the terminal long arm of chromosome 18, resulting in developmental delay, hypotonia, facial and cranial deformities as well as visual, hearing and postural alterations (Imataka et al., 2015; Oliveira et al., 2006). Since there is a deletion of the 18q gene, there is also a deletion of the region 18q23 which encodes myelin basic protein (MBP), an important constituent of myelin in the central nervous system, low MBP production causes hypomyelination which in turn is one of the responsible factors of developmental delay (Tada and Takanashi, 2014). CASE DESCRIPTION: The patient M.A.P.B. was born March 2nd 2015 at 39 weeks through normal childbirth, with weight of 3,260 kg and height of 49 cm. Afterwards, during the 24 hour observation period, patient started vomiting episodes for which the doctor extended the observational time for another 24 hours as well as requesting exams to determine the cause of the emesis. Through a echocardiogram , she was diagnosed with a Atrial Septal Defect (ASD) of 3 mm, she received treatment for the reflux and began a cardiopediatric monitoring. After 6 days, she started drug therapy with Furosemide and for unknown reasons, she started to have deep dehydration, after which she was hospitalized for a week in ICU (Intense Care Unit). During this period in the hospital, she lost 0,900 kg of weight and displayed apathy. With 7 months, she started to sit and showed no active movement. When the patient was 11 months old, she started to go to school and the teacher noticed the developmental delay and notified the family. After the pediatrician assured the family that such delay was normal, the child’s caretakers initiated physiotherapy on their own. After changing pediatricians, she was recommended to a neurologist who requested a G-banding chromosome analysis which revealed a karyotype of 46, XY, del(18)(q21). After the test results, the patient also started having geneticist monitoring, although it was revealed afterwards that it was a sporadic mutation and not a hereditary
one, patient proceder on with phisiotherapy treatment along with occupacional therapist assistance. DISCUSSION: On account of being such a rare disorder and its similarities to other syndromes, differential diagnosis is essential and is also important to have these cases disseminated as to raise awareness of the existence of such condition. The patient M.A.P.B. can be seen as an example on how a early diagnosis can impact positively on the prognosis of the disease, in addition to easing the emotional and social effects of this condition on the patient and her family.
Imataka, G., Ohwada, Y., Shimura, N., Yoshihara, S., Arisaka, O., 2015. Del(18)(q12.2q21.1) syndrome: a case report and clinical review of the literature. Eur. Rev. Med. Pharmacol. Sci. 19, 3241–3245.
Oliveira, L. S., Couceiro, L. S. & Rocha, R. S. B. (2006). Fisioterapia no desenvolvimento neuropsicomotor da Síndrome 18 Q-: Estudo de um caso. Fisioterapia em Movimento. 19(4), 63-71.
Tada H., Takanashi, J-i. MR spectroscopy in 18q- syndrome suggesting other than hypomyelination. Brain and Development. 2014;36(1):57-60.