Epidermal nevus syndromes (ENS) are a group of complex disorders characterized by the presence of epidermal hamartomas in association with extracutaneous manifestations involving numerous organ systems. The diseases included within the spectrum of ENS are quite rare and specific molecular defects have been elucidated in only a few cases. An epidermal nevus syndrome with a mutation of the ZMYM2 gene has not been reported to the best of our knowledge.

This is a case of a 17-year-old female who presented at birth with prominent skeletal deformities and multiple erythematous verrucous papules and plaques in a blaschkoid distribution on the back and extremities, increasing in size and number as the patient grew. The patient was also noted to have delayed gross motor and speech milestones as well as marked mixed hearing loss on both ears. Histologic findings of the skin lesions were consistent with Verrucous Epidermal Nevus. Further imaging workups revealed the presence of bilateral diminutive kidneys. Whole exome sequencing by orthogonal method (Sanger sequencing) was performed revealing a likely pathogenic variant of the ZMYM2 gene, a gene which as of writing, has not been associated with any epidermal nevus syndrome.

We provide the first evidence of the possibility of involvement of the gene ZMYM2 in ENS. Considering the detected variant does not fully explain the patient’s phenotype, proceeding to genome sequencing and performing targeted testing by next generation sequencing on the affected tissue to assess the mosaicism of the detected variant is highly considered.

Human ; Female ; Adolescent: 13-18 Yrs Old

The Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disease that involves singlebase gene mutation in the LMNA gene which results in the production of a dysfunctional and mutant lamin A protein called progerin. Progerin is found in increased concentration in normal older individuals hence patients present with phenotypic signs of aging. [1] Based on current studies, there is no established predisposition and association between abdominal masses, specifically ovarian masses in female, adolescent, progeria patients. This is an adolescent female patient with progeria presenting with an ovarian mass. Further studies to establish the correlation between Hutchinson-Gilford progeria syndrome (HGPS) and abdominal masses specifically masses in the reproductive system have yet to be done. The exact mechanism by which progeria patients become predisposed to developing abdominal masses, specifically ovarian masses is still a grey area in research. Through this case report, routine abdominal ultrasound screening or routine abdominal CT scan can be done to screen for presence of masses in HGPS patients.

Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS) occurs with Hirschsprung’s disease. It is extremely rare with only more than 60 cases reported in the worldwide literature. We report on a Filipino newborn male infant who presented with signs and symptoms of progressive abdominal enlargement, bowel obstruction, and recurrent hypoventilation. The diagnosis of Haddad syndrome was made clinically and confirmed by sequence analysis of the PHOX2B gene which showed a 27repeat heterozygous expansion of the polyalanine-coding region. All CCHS patients require assisted ventilation especially during sleep to prevent lung atelectasis and other complications. An early diagnosis and confirmation by genetic testing is vital for proper management of affected patients.
Hirschsprung Disease

The Volunteer Youth Leaders for Health-Philippine(VYLH- Philippines) is a national youth network established in 2009 as an model on how to organized young women and men into a national force that promotes self-learnings, independence,personal growth and sustained public health change from the grassroots level to up.Formed under the aegis of the University of the Philippines Manila and the department of health,the VYLH- Philippines has focused its activities in the past eight years on helping reduce mortality and disability from congenital disorder through awareness program and support for policy development.This paper describes in details the organization and extraordinary accomplishment of the VYLH- Philippines to date.

Human ; Male ; Female ; Philippines ; Public Health ; Organizations ; Policy Making ; Awareness ; Volunteers

There is still a strong need for new treatment strategies that will maintain remission and prolong survival in patients with acute lymphoblastic leukemia (ALL). The glutathione-S-transferase (GST) enzymes, which are coded by highly polymorphic genes, have been associated with the risk of developing cancer and were found to regulate effect of cancer treatment drugs.
OBJECTIVES: The present study determines the association of GSTM1, GSTP1 and GSTT1 polymorphisms and treatment response in terms of occurrence of adverse events and relapse in ALL in Filipino children.
METHODS: This is a follow up study on the 2007 investigation done by Alcausin et al. which determined the association of the GST P1, M1, and T1 polymorphisms and occurrence of ALL. Four-year follow-up data were available for 46 out of the 50 patients from January 2007 to May 2011. Odds ratios (OR) as measures of association of GST M1, P1 and T1 gene polymorphisms with treatment outcomes were estimated at 95% confidence interval.
RESULTS: Results show a trend towards predisposition to elevation of liver enzymes in patients with GSTT1 and GSTP1 mutant genotypes showing an OR (95% Cl) of 2.0 (0.62-6.49). The presence of GSTM1 null genotype showed a trend towards protection from occurrence of relapse basing on both crude and adjusted ORs, 0.58 (0.16-2.07) and 0.23 (0.05-1.20), respectively. However, these results are not statistically significant.
CONCLUSION: The GSTP1 heterozygous genotype conferred increased predisposition to elevation of liver enzymes while the GSTT1 null genotype was shown to be a possible risk factor towards the occurrence of both infection and elevation of liver enzymes during chemotherapy. Furthermore, the GSTM1 null genotype appears to be protective from occurrence of relapse. It is recommended to do similar large-scale studies in the future to obtain more conclusive results.

Human ; Male ; Female ; Child ; Child Preschool ; Child ; Confidence Intervals ; Follow-up Studies ; Genotype ; Glutathione ; Glutathione S-transferase Pi ; Glutathione Transferase ; Liver ; Precursor Cell Lymphoblastic Leukemia-lymphoma ; Recurrence ; Treatment Outcome ; Glutathione S-transferase M1 ; Glutathione S-transferase T1

Introduction. Birth defects are global problem with impact particularly severe in middle - to low -income countries. In the Philippines, there is a limited data on birth defects despite the fact that congenital anomalies have been in the top 10 causes of infant mortality. The objectives of the study were: 1.) to determine the occurrence of birth defects among patients admitted to the Philippine General Hospital (PGH); 2.) To present the distribution of patients by geographic location and age group distribution; 3.) To categorize birth defects by organ systems; and 4.) To categorize birth defects as either isolated, part of a recognizable syndrome, chromosomal syndrome of multi-malformed case. Methods. Patients admitted to PGH from 2001-2010 and to have major structural defects were included in this study. Case ascertainment was done through a review of medical records of all admitted patients age 0 to more than 65 years old. Patients with birth defects was assigned codes of International Classification of Diseases (ICD)-10 classification. Results. Of the 438,944 admissions to the PGH from 2001 to 2010, there were 8,686 (2.0%) patients with a diagnosis of at least one (1) birth defect. The most common birth defects are as follows: digestive system (3,605/8,686 or 41.5%), cardiovascular system (,839/8,686 or 32.7%), nervous system (1,070/8,686 or .3%) and genital organ anomalies (755/8,686 or 8.7%). The common digestive system anomalies were cleft lip and /or palate (1,548/8,686 or 17.8%), imperforate anus (698/8,686 or 8%) and hirschsprung disease (582/8,686 or 6.7%). Most of the cardiovascular system anomalies were congenital malformations of the cardiac septa (1,160/8,686 or 13.4%) and the great arteries (769/8,686 or 8.9%), while almost of the nervous system anomalies were due to congenital hydrocephalus (347/8,686 or 4%), encephalocoele (303/8,686 or 3.5%) and spina bifida (193/8,686 or 2.%) The most common genital organ anomalies were hypospadias (340/8,686 or 3.9%) and undescended testicle (233/8,686 or 2.7%) Majority (4,042/8,686 or 46.5%) of birth defect cases came from the National Capital Region (NCR) while 32.5% (or 2,87/8.686) of the cases came from region IV-A or Cavite, Laguna, Batangas , Rizal and Quezon (CALABARZON) Region. Conclusion. The results of this study show that the most common birth defects are digestive, cardiovascular, nervous system, and genital organ anomalies. This trend is similar to those reported internationally. The findings of the study can be the basis of policies toward the development and implementation of practical strategies for primary and secondary prevention of birth defects among Filipinos.
Human ; Male ; Female ; CONGENITAL ABNORMALITIES ; CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ABNORMALITIES ; ABNORMALITIES ; EPIDEMIOLOGY

Introduction. Recurrent pregnancy loss is a devastating reproductive problem that affects 5% of couples trying to conceive. Majority of the cases are due to cytogenetic errors. This study determines the prevalence of chromosomal structural abnormalities in Filipino couples who presented with 2 or more pregnancy losses. Methods. Results from chromosomal analysis of couples referred for 2 or more miscarriages done at the Institute of Human Genetics-National Institutes of Health-University of the Philippines, Manila on peripheral blood samples from 1991 to 2010 were restrospectively reviewed. Results. There were 356 couples with a history of 2 or more miscarriages sent for chromosomal analysis from 1991-2010 included in this study. Among these 356 couples, 17 couples (4.8%) were found to be carriers of different chromosomal abnormalies. From a total of 18 cases, there were 13(3.6%) translocations, 1(0.3%) insertion, 2(0.6%) with marker chromosomes, 1(0.3%) pericentric inversion and 1(0.3%) deletion. Conclusion. The overall frequency of chromosomal structural abnormalities among patients with RPL in this study is 4.8% with translocations being the most common type detected. The results of this study are similar to that of previous large-scale studies which have demostrated that parental chromosomal abnormalities are associated with RPL.
Male ; Female ; RECURRENCE ; PREGNANCY ; CHROMOSOME ABERRATIONS ; ABORTION, SPONTANEOUS ; FEMALE UROGENITAL DISEASES AND PREGNANCY COMPLICATIONS ; PREGNANCY COMPLICATIONS ;

We report a 12-day-old infant who presented with ambiguous genitalia, short stature, low-set ears, stubby nose, patent ductus arteriosus and ventricular septal defect. He was confirmed to have a ring chromosome 10 by cytogenetic analysis. Review of the literature showed that our patient shared common clinical manifestations with previously described cases.
Infant Newborn ; DISORDERS OF SEX DEVELOPMENT ; UROGENITAL ABNORMALITIES ; CYTOGENETIC ANALYSIS ; DIAGNOSIS ; DIAGNOSTIC TECHNIQUES AND PROCEDURES ; CLINICAL LABORATORY TECHNIQUES ; CYTOLOGICAL TECHNIQUES

We report an 11-month-old male who presented with recurrent seizures, subdural bleed, skull fracture, lightly pigmented hair, and fair lax skin. Copper and ceruloplasmin levels were low and gross deletion of ATP7A gene was found confirming the diagnosis of Menkes disease. The presence of subdural bleed and skull fracture prompted a referral to the Child Protection Unit to rule out child abuse.
Human ; Male ; Female ; Adult ; Infant ; MENKES KINKY HAIR SYNDROME ; NERVOUS SYSTEM DISEASES ; CENTRAL NERVOUS SYSTEM DISEASES ; BRAIN DISEASES ; BRAIN DISEASES, METABOLIC ; BRAIN DISEASES, METABOLIC, INBORN ; CERULOPLASMIN ; COPPER

Hyperphenylalaninemia is due to problems in phenylalanine metabolism caused by defects in phenylalanine hydroxylase enzyme and its co-factor, tetrahydrobiopterin (BH4). This paper presents a review of patients with hyperphenylalaninemia (HPA) diagnosed by Newborn Screening Center-National Institutes of Health from 1996 to 2009. Thirteen cases were diagnosed: five classical phenylketonuria (PKU), one mild PKU, three 6-pyruvoyl tetrahydrobiopterin synthase (6-PTPS) deficiency, and four mild hyperphenylalaninemia (HPA). The clinical profile of the patients highlights the importance of early diagnosis and dietary treatment, good metabolic control and regular monitoring, for better outcome.
6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY