Cystic Fibrosis (CF) is a rare condition among Asians and has not been reported in the Philippines as of this time. The inclusion of this disease in the Philippines’ Expanded Newborn Screening Program (ENBS) has provided this Filipino family the opportunity of early detection and appropriate management of this condition that could ensure the survival of the proband and his other surviving siblings. Here we present a case of a 24-month-old male who had a positive Expanded Newborn Screening (ENBS) test for cystic fibrosis and eventually underwent further tests to confirm a homozygous deletion of exons 1 - 2 of the CFTR gene. He subsequently had recurrent pneumonia but is being managed by a team consisting of a pulmonologist, gastroenterologist, and a metabolic dietitian. The proband had an older sibling whose Newborn Screening (NBS) test was normal and who eventually expired from recurrent bouts of pneumonia. This sibling was never managed as a case of cystic fibrosis. Implications on the diagnosis and management of CF in the local setting is also discussed. The importance of an appropriate CF panel customized to the local population should be reiterated and carrier testing should be encouraged to help with proper family counseling for future pregnancies for the family involved.
Cystic Fibrosis ; Neonatal Screening ; Philippines

Airway management of a pediatric patient with cervical cystic hygroma can be challenging as the large neck mass may extend in the oral cavity, result in tracheal deviation, and cause possible upper airway obstruction. This is a case of a 4-year-old female admitted due to sudden enlargement of neck mass associated with dysphagia and sialorrhea. Patient was intubated under sedation while maintaining spontaneous ventilation with a pediatric flexible fiberoptic scope through a nasopharyngeal airway serving as a passage guide for ease of scoping and a protective device against trauma.
Lymphangioma, Cystic ; Airway Management ; Intubation

Objective: A retrospective study of the demographic, clinical and diagnostic profile, intervention and outcomes of children with Congenital Pulmonary Airway Malformation (CPAM) in Philippine Children’s Medical Center (PCMC) from January 2011 to December 2021 was presented. Methodology: Medical charts of identified patients were reviewed. Data obtained included demographic profile, clinical history, diagnostic procedures, intervention, and outcomes. The findings were analyzed and correlated with the synthesized findings from relevant studies about CPAM. Results: Twenty-three cases (n=23) were included in the study. Most of the patients were diagnosed at 1 to 11 months of age, accounting for 43.48% while there is a minimal disparity in terms of gender distribution. Seventy-five percent of neonates presented with respiratory distress while recurrent pneumonia occurred more frequently beyond the neonatal period. Four patients at 17.39% had incidental findings of CPAM on prenatal ultrasound. All cases were confirmed using a Chest CT scan and only six patients at 26.09% had Chest X-ray results consistent with CPAM. Eight cases were confirmed using biopsy wherein results were mainly Type I seen in 87.5% of cases. Lobectomy is the procedure of choice with 92.86% success rate. Overall, patients who underwent surgical intervention had a low complication rate at 6.25%. Conclusion CPAM is most common in patients aged 1 to 11 months and has no gender predilection. Neonates often present with respiratory distress while recurrent pneumonia is the most common clinical manifestation beyond neonatal period. CPAM can be detected using ultrasound prenatally and CT scan can confirm CPAM postnatally. Surgical intervention particularly lobectomy is the preferred option over conservative management which showed a favorable outcome. CPAM has an overall good prognosis. Findings of this research may guide clinicians in the diagnosis and management of CPAM in the Philippines.
Cystic Adenomatoid Malformation of Lung, Congenital

Objective: To present a rare case of Adenoid Cystic Carcinoma of the external ear canal in a 73-year-old man, including its diagnosis and surgical management. : Methods Design: Case Report Setting: Tertiary Government Training Hospital Patient: One Results: A 73-year-old man who consulted due to decreased hearing on the right ear had a 4-year history of gradually enlarging mass occupying the right external auditory canal. Wide en bloc resection of the external auditory canal mass and superficial parotidectomy with facial nerve preservation was performed with final histopathology results of adenoid cystic carcinoma. Follow-up at 2 years has shown no signs or symptoms or recurrence. Conclusion Adenoid cystic carcinoma of the external ear canal is a very rare disease that can present similarly to other otologic infections. Early identification of symptoms, performance of necessary imaging, and timely biopsy are key to reducing misdiagnosis and improving the survival rate. Complete resection of the tumor with adequate margins is the recommended treatment due to its high rates for recurrence.
Carcinoma, Adenoid Cystic ; Ear Neoplasms

The patient is a five-year old female who complained of abdominal pain. A ping pong ball-sized mass on left lower quadrant of the abdomen was palpated six (6) months ago, which rapidly grew in size and caused abdominal pain. Physical examination showed a 10 cm x 10 cm firm, non-tender, smooth hypogastric mass with limited mobility. Primary impression was a mature cystic teratoma and a differential diagnosis of a malignant ovarian mass was considered because of the elevated tumor marker CA-125 and papillary excrescences on abdominal ultrasound. A multidisciplinary team composed of pediatric anesthesiologist, pediatric hematology-oncology expert, pediatric surgeon and the obstetrician gynecologist was formed to do thorough pre- and post-op planning. The patient underwent exploratory laparotomy, peritoneal fluid cytology, left oophorocystectomy, and frozen section under general anesthesia. Frozen section revealed teratoma with mature components in three sections. Final histopathologic result was mature cystic teratoma, 13.5 centimeters in greatest tumor dimension. She was discharged on the tenth hospital day. Dilemmas in management were discussed.
mature cystic teratoma

Adenoid cystic carcinoma usually occurs in the salivary glands of the head and neck. It is a malignant tumor with a high degree of malignancy, resistance to radiotherapy and chemotherapy and poor prognosis. The clinical course of adenoid cystic carcinoma is slow and easy to be misdiagnosed. The main diagnosis and treatment means are individualized and precise treatment under the multi-disciplinary consultation mode, that is, surgical treatment and radiotherapy and chemotherapy. Adenoid cystic carcinoma is prone to relapse and hematologic metastasis, and the traditional radiotherapy and chemotherapy based therapies have not achieved satisfactory efficacy in the past three decades. How to detect, diagnose and treat early is an urgent task faced by clinicians.
Humans ; Carcinoma, Adenoid Cystic/pathology* ; Neoplasm Recurrence, Local ; Neck/pathology* ; Oropharynx/pathology* ; Diagnostic Errors

OBJECTIVES: To improve the understanding of the clinical phenotypes and genetic characteristics of nephronophthisis (NPHP) and related syndromes in children. METHODS: A retrospective analysis was performed on the medical data of eight children with NPHP and related syndromes who were diagnosed and treated in the Department of Pediatrics of the Second Hospital of Hebei Medical University, from January 2018 to November 2022. The clinical characteristics and genetic testing results were analyzed. RESULTS: Among these eight children, there were five boys and three girls, with an age of onset ranging from 15 months to 12 years. All 8 children exhibited different degrees of renal function abnormalities when they attended the hospital. Among the eight children, two had the initial symptom of delayed development, two had the initial symptom of anemia, and two were found to have abnormal renal function during physical examination. The extrarenal manifestations included cardiovascular abnormalities in two children, skeletal dysplasia in two children, liver dysfunction in one child, retinitis pigmentosa in one child, and visceral translocation in one child. All eight children had renal structural changes on ultrasound, and four children had mild to moderate proteinuria based on routine urine test. Of all eight children, five had NPHP1 gene mutations and one each had a gene mutation in the NPHP3, IFT140, and TTC21B genes, and four new mutation sites were discovered. CONCLUSIONS Children with NPHP and related syndromes often have the initial symptom of delayed development or anemia, and some children also have extrarenal manifestations. NPHP and related syndromes should be considered for children with unexplained renal dysfunction, and high-throughput sequencing may help to make a confirmed diagnosis.
Child ; Humans ; Retrospective Studies ; Syndrome ; Kidney Diseases, Cystic/genetics* ; Mutation ; Phenotype

OBJECTIVE: To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome. METHODS: Clinical data of the two pedigrees was collected. Genomic DNA was extracted from peripheral blood samples and subjected to high-throughput sequencing. Candidate variants were verified by Sanger sequencing. Prenatal diagnosis was carried out for a high-risk fetus from pedigree 2. RESULTS: The proband of pedigree 1 was a fetus at 23⁺⁵ weeks gestation, for which both ultrasound and MRI showed "cerebellar vermis malformation" and "molar tooth sign". No apparent abnormality was noted in the fetus after elected abortion. The fetus was found to harbor c.812+3G>T and c.1828G>C compound heterozygous variants of the INPP5E gene, which have been associated with Joubert syndrome type 1. The proband from pedigree 2 had growth retardation, mental deficiency, peculiar facial features, low muscle tone and postaxial polydactyly of right foot. MRI also revealed "cerebellar dysplasia" and "molar tooth sign". The proband was found to harbor c.485C>G and c.1878+1G>A compound heterozygous variants of the ARMC9 gene, which have been associated with Joubert syndrome type 30. Prenatal diagnosis found that the fetus only carried the c.485C>G variant. A healthy infant was born, and no anomalies was found during the follow-up. CONCLUSION The compound heterozygous variants of the INPP5E and ARMC9 genes probably underlay the disease in the two pedigrees. Above finding has expanded the spectrum of pathogenic variants underlying Joubert syndrome and provided a basis for genetic counseling and prenatal diagnosis.
Female ; Humans ; Pregnancy ; Pedigree ; Cerebellum/abnormalities* ; Abnormalities, Multiple/diagnosis* ; Eye Abnormalities/diagnosis* ; Kidney Diseases, Cystic/diagnosis* ; Phosphoric Monoester Hydrolases/genetics* ; Retina/abnormalities* ; East Asian People ; Mutation

Congenital bilateral absence of the vas deferens (CBAVD) is observed in 1%-2% of males presenting with infertility and is clearly associated with cystic fibrosis transmembrane conductance regulator (CFTR) mutations. CFTR is one of the most well-known genes related to male fertility. The frequency of CFTR mutations or impaired CFTR expression is increased in men with nonobstructive azoospermia (NOA). CFTR mutations are highly polymorphic and have established ethnic specificity. Compared with F508Del in Caucasians, the p.G970D mutation is reported to be the most frequent CFTR mutation in Chinese patients with cystic fibrosis. However, whether p.G970D participates in male infertility remains unknown. Herein, a loss-of-function CFTR p.G970D missense mutation was identified in a patient with CBAVD and NOA. Subsequent retrospective analysis of 122 Chinese patients with CBAVD showed that the mutation is a common pathogenic mutation (4.1%, 5/122), excluding polymorphic sites. Furthermore, we generated model cell lines derived from mouse testes harboring the homozygous Cftr p.G965D mutation equivalent to the CFTR variant in patients. The Cftr p.G965D mutation may be lethal in spermatogonial stem cells and spermatogonia and affect the proliferation of spermatocytes and Sertoli cells. In spermatocyte GC-2(spd)ts (GC2) Cftr p.G965D cells, RNA splicing variants were detected and CFTR expression decreased, which may contribute to the phenotypes associated with impaired spermatogenesis. Thus, this study indicated that the CFTR p.G970D missense mutation might be a pathogenic mutation for CBAVD in Chinese males and associated with impaired spermatogenesis by affecting the proliferation of germ cells.
Humans ; Animals ; Mice ; Male ; Mutation, Missense ; Retrospective Studies ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics* ; Infertility, Male/genetics* ; Mutation ; Vas Deferens/abnormalities* ; Spermatogenesis/genetics*

Male ; Humans ; Mutation, Missense ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics* ; Infertility, Male/genetics* ; Genetic Testing ; Mutation ; Vas Deferens