Barangay Tinajero is one of the most depressed barangays (barrios) among the 21 barangays of Bacolor, Pampanga. Two UPCM (University of the Philippines, College of Medicine) Class 2012 Regionalization Program (RP) students conducted their three consecutive summer immersions (2008-2010) in Barangay Tinajero, Bacolor, the student's activities and their reflection on their experiences in the barangay.

Berardinelli-Seip Congenital Lipodystrophy (BSCL) is an autosomal recessive inborn error of the common pathway of acylglycerol and phospholipid synthesis. Patients with this condition present with generalized lipoatrophy, hepatomegaly, acromegalic features, hypertrichosis, and developmental delay. But on workup, they may also be discovered to have hypertriglyceridemia with or without hypercholesterolemia and insulin resistance. A high index of suspicion is required for diagnosis which may have implications in management. Here we present a 5-year old male with clinical features of BSCL. BSCL2 gene sequencing done showed a homozygous c.782dupG, p.(Ile262Hisfs*12) sequence alteration, classified as pathogenic, hence, confirming the diagnosis of BSCL. This is the first reported case in the Philippines.

Key Words: Berardinelli-Seip Congenital Lipodsytrophy, insulin resistance

Objective: The study aimed to determine the prevalence of birth defects among neonates born at the Philippine General Hospital (PGH) from January 2011 to December 2014. Methods: Monthly censuses of all deliveries from January 2011 to December 2014 were obtained from the Section of Newborn Medicine. All deliveries with birth defects were coded using International Classification of Diseases-10 (ICD -10). The codes were tallied and classified as either an isolated, part of a recognizable syndrome, chromosomal syndrome or multi-malformed case (MMC). Period prevalence was then calculated. Results: There was a total of 20,939 deliveries from 2011 to 2014 in PGH, of which 574 babies (2.74%) had a diagnosis of at least one birth defect. Two-hundred seventy-three babies (47.56%) had isolated defects; 130 (22.65%) with defects in MMC; 106 (18.47%) with defects as part of recognizable syndromes; and 65 (11.32%) with defects as part of chromosomal syndromes. One in 36 births has at least one birth defect, which is higher than that reported in other Asian countries. Conclusion Birth defects are significant causes of morbidity and mortality. Results of this study provide baseline data that can be used for future studies on the causation of such birth defects, and can be used to formulate policies on primary and secondary prevention. For a tertiary hospital like PGH, these data can serve as a guide towards allocation of resources and manpower towards the more common birth defects.
Congenital Abnormalities

Asymmetric overgrowth syndromes are a diverse group of diseases with overlapping features including asymmetric overgrowth of a body part, vascular malformations, lipomatosis, and epidermal nevus. Three important considerations when presented with these features are Proteus syndrome, CLOVES (Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Skeletal anomalies) syndrome and SOLAMEN (Segmental Overgrowth, Lipomatosis, Arteriovenous Malformation, Epidermal Nevus) syndrome. This paper aimed to present a rare case of asymmetric overgrowth syndrome. A 3-year-old child with asymmetric overgrowth of the right upper and lower extremities was seen at the clinic. He also had epidermal nevus, lipomatosis, skeletal abnormalities, and vascular malformation. The history showed the presence of segmental proportionate overgrowth with soft tissue hypertrophy and ballooning effect based specifically on the location, timing, and progression of overgrowth. On physical examination, macrocephaly was also noted. Based on these features, the diagnosis of SOLAMEN syndrome was made. This is the first reported case of SOLAMEN syndrome in the Philippines. The importance of a careful and thorough history and physical examination cannot be overemphasized. A multidisciplinary approach in management with appropriate referral to subspecialists and early monitoring for possible malignancies are needed.
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi

The Senior–Loken syndrome was first described in 1961 as an oculo-renal disease consisting of familial juvenile nephronophthisis and Leber congenital amaurosis. It is a rare autosomal recessive disorder with a prevalence of 1:1,000,000 caused by mutations in nine genes (NPHP 1-8 and NPHP 10). Ocular manifestations (e.g., photophobia, nystagmus, and extreme hyperopia) occur within the first few years of life while renal manifestations (e.g., formation of multiple cysts impairing kidney function and end-stage renal disease) appear in late childhood to adolescence. Here, we report a case of a Filipino male presenting with rotatory nystagmus and progressive deterioration of vision since childhood. He had congenital amaurosis and juvenile nephronophthisis that progressed to end stage renal disease by age 19. All laboratory and imaging findings were consistent with chronic kidney disease. Molecular genetic testing of ciliopathy-related genes was performed revealing a homozygous mutation in exon 11 of the IQCB1/NPHP5 gene, c.1090C>T (p.Arg364*). This sequence change created a premature translational stop signal resulting in a truncated protein product, nephrocystin-5 and its consequent loss of function. His symptoms eventually improved with initiation dialysis. The prognosis of Senior–Loken syndrome remains dismal and a high index of suspicion, early diagnosis and timely intervention of renal complications are warranted.

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.
Angelman Syndrome

Background: Hemoglobinopathies as a group is one of the most common conditions confirmed through the newborn screening (NBS) program of the Philippines. This led to the increased participation of pediatric hematologists in the NBS program. Objective: The aim of the study was to assess newborn screening acceptance and knowledge of pediatric hematologists using an online questionnaire. Method: Members of the Philippine Society of Pediatric Hematology (PSPH), who are practicing pediatric hematologists in the Philippines, were invited to answer an online questionnaire. Results: Sixty members of the PSPH (65.2%) answered the survey. All the respondents are familiar with the newborn screening program. Fifty-seven respondents (95 %) have already managed a case of hemoglobinopathy identified through the newborn screening program. Differences in the approach to management and level of confidence with diagnostic test result interpretation have been noted. General themes of their concerns include being unaware of the protocol, concerns on delays in confirmatory tests, request for guidelines on follow-up, and incongruence of results with clinical picture. Conclusion The information collected may be used to develop strategies to better equip our pediatric hematologists and assist the PSPH standardize management protocols for hemoglobinopathies.
hemoglobinopathies ; newborn screening

Introduction: Glutaric Aciduria Type 1 (GA1) is an inborn error of metabolism included in the expanded newborn screening of the Philippines. This inborn error of metabolism is caused by glutaryl-CoA dehydrogenase deficiency which is important in the catabolism of lysine, hydroxylysine and tryptophan. Objective: This paper aimed to present the baseline data of patients with GA1 in the Philippines by describing the clinical, biochemical, and radiologic characteristics of Filipino patients with biochemically-confirmed GA1 seen at the Philippine General Hospital from January 2010 to December 2017. The cases of this condition have been increasing and are expected to increase even more with the full coverage of the expanded newborn screening. Methods: This study was a review of the medical records of the GA1 patients managed by the Division of Clinical Genetics, Department of Pediatrics of the Philippine General Hospital (PGH). Biochemical parameters, developmental assessment, neurologic assessment, and radiologic features of the patients were reviewed and analyzed. Results: There were a total of 7 patients with GA1 at the PGH from January 2010 to December 2017. Of the 7 patients, 4 were diagnosed by expanded newborn screening (ENBS) and 3 patients had disease onset prior to diagnosis. Clinical features noted in screened patients include global developmental delay (75%), seizures (50%), dystonia (50%), truncal hypotonia (25%) and macrocephaly (25%). In unscreened patients, macrocephaly was present in 66.67 %, while the other clinical features were present in all of them. Four of the 7 patients had infection and one had vaccination, which may have led to a metabolic crisis and subsequent onset of symptoms. The plasma levels of glutarylcarnitine (C5DC) range from 2.81 to 4.58 umol/L. Grossly elevated urinary excretion of glutarylcarnitine were noted in all patients. Urinary glutaconic acid and 3-hydroxyglutaric acid were also detected in all patients. Both striatal and extra-striatal abnormalities were present in screened and unscreened patients on neuroimaging. The most common being the widening of the sylvian fissure, cerebral atrophy, and white matter abnormalities. Conclusion Although newborn screening of GA1 and initiation of early management of this condition have been seen important, it is still prudent to continue the appropriate management and to provide timely aggressive emergency treatment in order to improve outcome of patients with GA1. With the recent Philippine Health Insurance (PhilHealth) coverage of the expanded newborn screening, it is expected that physicians will encounter more of the metabolic disorders, including GA1. Hence, it is important that physicians be more aware of the presenting signs and symptoms of this disorder, as well as its management, which can further improve the neurologic and developmental outcomes of these patients.
Neonatal Screening

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.
Isochromosomes ; Hypertelorism

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia whose most common features include late closure of fontanelles, absent or hypoplastic clavicles, and dental abnormalities. This disorder is primarily due to mutations in RUNX2 (CBFA1) gene. Here we present a Filipino child with clinical and radiologic features of CCD who was also diagnosed with B-cell acute lymphoblastic leukemia (ALL). On history, the patient’s father and paternal grandfather also presented with short stature and similar facial features. Association of leukemia and CCD has been noted in the literature. Hence, this report adds to the potential role of RUNX2 gene in leukemogenesis. With the potential predisposition to developing leukemia, this provides implications in genetic counselling and possible recommendations for surveillance later on.
Cleidocranial Dysplasia ; Leukemia