Angelman Syndrome in a Filipino child

@#Angelman syndrome (AS) is a distinct condition that presents with severe developmental delay. This condition also presents with speech impairment, ataxia/tremor, and inappropriate laughter. Some other features in most patients include microcephaly, seizures, tongue protrusion, wide mouth, and hypopigmentation. This case aims to emphasize the value of diagnosis in a patient with developmental delay. The diagnosis allows anticipation of the development of other possible problems and guides appropriate management. This report also aims to increase awareness regarding the condition. Here we present a 71-month-old Filipino male with developmental delay at six months, seizures at 10 months with a note of an overall happy demeanor and frequent inappropriate bouts of laughter at one year old. The patient also presented with severe stunting, microcephaly, wide mouth and ataxic gait. Through pattern recognition and the updated consensus of its diagnostic criteria, and confirmation via fluorescence in situ hybridization (FISH), which revealed a deletion in chromosome 15q11, the diagnosis of AS was made. This case re-emphasizes the role of clinical recognition of this condition and its confirmation via cytogenetic techniques like FISH, which will aid appropriate management and counseling for the patient and their families.

Tetrasomy 9p syndrome in a Filipino infant

@#Tetrasomy 9p syndrome is a rare chromosomal abnormality syndrome whose most common features include hypertelorism, malformed ears, bulbous nose and microretrognathia. These features present as a result of an additional two copies of the short arm of chromosome 9. Here we present a neonate with characteristic facial features of hypertelorism, downslanted palpebral fissure, bulbous nose, small cupped ears, cleft lip and palate, and downturned corners of the mouth. Clinical features were consistent with the cytogenetic analysis of tetrasomy 9p. In general, clinicians are not as familiar with the features of tetrasomy 9p syndrome as that of more common chromosomal abnormalities like trisomies 13, 18, and 21. Hence, this case re-emphasizes the importance of doing the standard karyotyping for patients presenting with multiple congenital anomalies. Also, this is the first reported case of Tetrasomy 9p syndrome in Filipinos.