BACKGROUND

Six-pyruvoyl-tetrahydrobiopterin synthase (6-PTPS) deficiency is an inherited metabolic disorder which results in tetrahydrobiopterin (BH4) deficiency causing hyperphenylalaninemia.

This study aimed to describe the clinical, biochemical, and radiologic profiles, and neurologic and developmental outcomes of patients diagnosed with 6-pyruvoyl tetrahydrobiopterin (PTPS) deficiency through newborn screening and confirmed by BH4 loading test, pterin analysis, and gene sequencing who were following-up with the metabolic team.

The research was a single-center descriptive case series study design that was done at the Philippine General Hospital, a tertiary government hospital. The clinical, biochemical, radiologic profiles and neurodevelopmental evaluation of each patient were described.

Nine patients from 1 year 2 months to 14 years 5 months of age were enrolled in the study. Clinical manifestations before treatment were hypotonia, poor suck, and seizure. The most common clinical manifestation even after treatment initiation was seizure. The mean phenylalanine level on newborn screening was 990.68 umol/L, but after treatment was started, mean levels ranged from 75.69 to 385.09 umol/L. Two of the patients had focal atrophy of the posterior lobe on brain imaging. Pathogenic variants on molecular analysis were all missense, with two predominant variants, c.155A>G and c.58T>C. Eight of the nine patients had varying degrees of developmental delay or intellectual disability, while the remaining patient had signs of a learning disorder.

Newborn screening has played a crucial role in the early identification and management of patients with hyperphenylalaninemia due to 6-PTPS deficiency. Confirmation of diagnosis through determination of DHPR activity, urine pterins and/or molecular analysis is necessary for appropriate management. However, despite early initiation of treatment, neurodevelopmental findings of patients with 6-PTPS deficiency were still unsatisfactory.

OBJECTIVE: Attention Deficit Hyperactivity Disorder (ADHD) is a common mental disorder in children. It is unclear how nutrition and dietary components relate to ADHD. Some studies suggest that children with ADHD have lower serum levels of vitamin D than healthy controls. In the current study, the effects of Vitamin D supplementation on ADHD were reviewed and analyzed using available literature. MATERIALS AND METHODS: A meta-analysis and systematic review were performed. Children less than 18 years old diagnosed with ADHD given Vitamin D supplementation or placebo were included. A search was performed in PubMed/MEDLINE, EMBASE, Scopus, Cochrane, and Google Scholar databases from inception to August 2024 using the MeSH keywords: "Vitamin D" AND (ADHD OR Attention Deficit Hyperactivity Disorder) AND (children OR pediatric OR adolescents) AND randomized controlled trial. Standardized Mean Difference (SMD) was used as an effect measure and pooled using random effects meta-analysis. RESULTS: The pooled SMS showed significantly lower ADHD scores (SMD=-0.59, 95%CI=-1.06 to -0.11, p=0.01), lower inattentive scores (SMD=-0.61, 95%CI=-1.00 to -0.23, p=0.002), and lower hyperactivity scores (SMD=-0.64, 95%CI=-1.08 to -0.20, p=0.004) in children given Vitamin D supplementation. The adverse events reported were minor only and did not vary significantly between intervention and control groups. CONCLUSION Vitamin D treatment as an adjuvant to methylphenidate alleviated ADHD symptoms without significant adverse effects, correlating with enhanced vitamin D levels. Given the robust evidence and well-structured randomized controlled trials, we strongly advocate for the integration of vitamin D supplementation with ADHD treatment.
Human ; Male,Female ; Adolescent: 13-18 yrs old ; Child Preschool: 2-5 yrs old ; Child: 6-12 yrs old ; Vitamin D ; meta-analysis ; systematic review

A 4-year-old female with Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome, with a pathogenic variant of the NSDHL gene, c.130G>A (p.Gly44Ser), and unilateral right-sided erythematous verrucous plaques with scaling and ipsilateral limb defects, was started on 5% simvastatin ointment. It was applied twice daily for four months, with improvement already seen starting week 2. Monotherapy with 5% simvastatin ointment was able to decrease the thickness of the verrucous plaques seen in our patient, highlighting that the accumulation of toxic metabolites may play a more crucial role in its disease pathogenesis.

Juvenile Dermatomyositis (JDM) is a rare type of idiopathic inflammatory myopathy affecting children, characterized by symmetric proximal muscle weakness and pathognomonic cutaneous manifestation such as heliotrope rash and Gottron papules. In the Philippines, there are only 40 cases from 2011 to 2022. It is an autoimmune disease, although several studies have associated its onset to the presence of systemic infections. In cases complicated by systemic infection, early initiation of comprehensive treatment is essential in order to achieve remission.

This is a case of a 2-year old female presenting with a 2 month history of erythematous macules over the metacarpophalangeal (MCP), proximal interphalangeal (PIP), distal interphalangeal joints (DIP), and knees, nailfold changes, and facial erythema on sun exposure. This was associated with decreased activity, inability to walk continuously, and symmetric proximal muscle weakness. Skin punch biopsy was done which revealed interface vacuolar dermatitis, alcian blue stain positive. Laboratories revealed elevated ANA, aldolase, LDH, and SGPT which were all consistent with dermatomyositis. Patient was started on oral prednisone, hydroxychloroquine and topical corticosteroids. Notably, the patient was also diagnosed with pulmonary tuberculosis and ascariasis. Thus, she was also started on anti-Kochs regimen and mebendazole. After 2 months of steroid therapy and hydroxychloroquine, there was improvement in cutaneous lesions with significant increase in activity and mobility.

In a country where pulmonary tuberculosis and ascariasis is common, it is of utmost importance to probe for underlying infections which may occur with or may be contributory to the onset of juvenile dermatomyositis.

Langerhans Cell Histiocytosis (LCH) is a rare disorder characterized by the abnormal proliferation of histiocytes, predominantly affecting the bones and skin. However, it can also involve the bone marrow, liver, spleen, lungs, pituitary gland, central nervous system, and other organs. The disorder is named for the neoplastic cells that resemble dendritic Langerhans cells found in the skin and mucosa.

We present the case of a 2-year-old Filipino female diagnosed with recurrent LCH, highlighting the diagnostic challenges and therapeutic interventions encountered. The patient initially presented with characteristic papules and plaques indicative of LCH. Initial treatment involved multi-agent chemotherapy, which resulted in significant clinical improvement. However, following the cessation of therapy, the patient experienced recurrence of symptoms, necessitating reevaluation. A skin punch biopsy confirmed the diagnosis of LCH, reinforcing the decision to reinitiate chemotherapy. Complications arose during treatment, including febrile neutropenia, which required hospitalization and adjustments to the management plan. After completing the chemotherapy cycles, the patient demonstrated marked clinical improvement, with the resolution of systemic symptoms and a reduction in the severity of cutaneous lesions.

This case underscores the complexities in managing recurrent LCH in pediatric patients. A comprehensive diagnostic evaluation, vigilant monitoring for treatment-related complications, and prompt therapeutic interventions are critical for achieving optimal outcomes. Effective management requires a multidisciplinary approach to address the unique challenges presented, ensuring timely interventions to improve patient outcomes.

Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia affecting children 2-5 years old. The clinical presentation ranges from self-resolving localized disease to fulminant, fatal disseminated disease. While the most common presentation of LCH are small, translucent crusted papules on the trunk, intertriginous areas, and scalp, it may present as crusted plaques and alopecia. A 3-year-old male presented with a 4-month history of solitary, well-defined, hyperpigmented plaque with yellow-brown crust on the left parieto-occipital area of the scalp measuring 1.5 x 1.5 cm and a solitary, well-defined, hairless patch with areas of erythema on the left parieto-occipital area measuring 5.0 x 6.0 cm. Scalp biopsy revealed diffuse collection of lymphohistiocytes interspersed with distinct kidney bean-shaped cells. CD1a is positive for cells of interest. Skeletal survey revealed lytic lesions involving the skull, thoracic cage, spine, pelvis, and upper and lower extremities. The rest of the physical examination findings revealed lymphadenopathy, crackles, globular abdomen with right and left upper quadrant dullness. The patient had episodes of fever, difficulty of breathing, and abdominal pain. The patient received chemotherapy as multisystem LCH based on prednisone and vinblastine. Following 3 courses of chemotherapy, there is noted hair regrowth and sloughing off of crust.

Drug-induced sleep endoscopy (DISE) is used for directly visualizing sites of obstruction among patients with obstructive sleep apnea (OSA). Owing to the scarcity of data, there is still no consensus on the anesthetic regimen for conducting pediatric DISE.

This paper presents a 5-year-old patient who underwent DISE using an opioid-sparing regimen with dexmedetomidine and propofol infusion.

Simultaneous dexmedetomidine and propofol infusion is a promising opioid-sparing regimen for pediatric DISE.

BACKGROUND

Bronchial asthma is one of the most common chronic childhood diseases encountered in the primary care setting. Adherence to recommendations from clinical practice guidelines on asthma can be utilized as an indicator of quality of care when evaluating the implementation of the universal health care in the Philippines.

To determine the clinical profile of pediatric patients with bronchial asthma; and to evaluate the prescription patterns for asthma treatment in a primary care setting.

This was a retrospective cohort study that involved review of the electronic medical records in a rural site of the Philippine Primary Care Studies (PPCS). All patients less than 19 years old who were diagnosed with asthma from April 2019 to March 2021 were included. Quality indicators for asthma care were based on adherence to recommendations from the 2019 Global Initiative for Asthma (GINA) Guidelines.

This study included 240 asthmatic children with mean age of 6 years (SD ± 4.9) and a slight male preponderance (55.4%). Majority (138 children or 57.5%) were less than 6 years old. Out of the 240 children, 224 (93.3%) were prescribed inhaled short-acting beta-agonists (SABA) and 66 (27.5%) were prescribed oral SABA. Only 14 children (5.8%) were prescribed inhaled corticosteroids (ICS), with 13 children (5.4%) given ICS with longacting beta-agonists (LABA) preparations, and one child (0.4%) given ICS alone. Quality indicators used in this study revealed underutilization of ICS treatment across all age groups, and an overuse of SABA-only treatment in children 6 years old and above. Moreover, 71.3% of the total patients were prescribed antibiotics despite the current GINA recommendation of prescribing antibiotics only for patients with strong evidence of lung infection, such as fever or radiographic evidence of pneumonia.

There were 240 children diagnosed with asthma over a 2-year period in a rural community, with a mean age of 6 years old and a slight male predominance. This quality-of-care study noted suboptimal adherence of rural health physicians to the treatment recommendations of the GINA guidelines, with overuse of SABA and underuse of ICS for asthma control.

Cough is a very common symptom causing medical consult. Several remedies are readily available in the market however these are currently not recommended among the pediatric population due to a few reasons which include the benign nature of acute cough, limited effectivity and lack of support from the United States Food and Drug Administration (USFDA) due to abuse potential.

We report a case of a 2-year-old male, no known co-morbidities with a 2 week history of upper respiratory tract infection. Initial assessment showed viral infection hence patient was given medications for symptomatic treatment. However, l week after, patient still presented with symptomatic persistent coughing that disrupted his activities of daily living, hence antitussive medication was already prescribed. After another 7 days, there was still persistence of symptoms, hence patient was given a trial medication of Pregabalin 0.7 milligram/kg/dose which noted instant cough relief one hour after the initial intake. Patient also reported to be more playful, improved sleep at night and improved appetite. Patient received total of 2 doses of Pregabalin in the span of 48 hours. On the third day, patient was still coughing but reported to be significantly less frequent and more productive, hence medication was then put on hold. Patient continuously improved after 5 more days and was eventually cough free.

This case report demonstrates the adequacy of Pregabalin as a supportive antitussive medication in a patient with an acute cough secondary to a viral infection.

OBJECTIVE: This study described bronchiectasis profiles at the Philippine Children’s Medical Center (2021-2023). MATERIALS AND METHODS: A retrospective chart review at PCMC analyzed the demographic profile, imaging, management and outcome of patients with bronchiectasis enrolled in the Chronic Lung Disease Program from 2021-2023. Results: Twenty seven patients were included in this study. Most patients were diagnosed after the age of six and showed female predominance. The most common symptom at the time of diagnosis was chronic cough (81.5%) with pulmonary tuberculosis (51.9%) as the most common etiology. All patients were treated with cyclic azithromycin. Pseudomonas aeruginosa was the prevalent microorganism isolated in the sputum and tracheal aspirate samples of the patients (56.5%). Conclusion Patients with bronchiectasis were more commonly diagnosed in children past age of six with more prevalence in females. The most common symptom was chronic cough followed by fever, dyspnea and weight loss. Pulmonary tuberculosis and recurrent respiratory infections were noted to be the most common etiology with the left lower lobe most affected in HRCT. The most common phenotype seen was cystic, which is irreversible and a sign of progressive bronchiectasis, which may point to a late diagnosis. This emphasizes the need for physicians to have a high index of suspicion in patients with chronic or recurrent respiratory symptoms. All patients were treated with an oral macrolide with 25-31% of patients with decreased and/or absent symptoms. Pseudomonas aeruginosa was the prevalent microorganism isolated in the sputum and tracheal aspirate samples of the patients, which should be taken into account when treating for exacerbation.
Human ; Male,Female ; Infant newborn: First 28 days after birth ; Infant: 1-23 months ; Child Preschool: 2-5 yrs old ; Child: 6-12 yrs old ; Bronchiectasis ; Patients ; Tuberculosis ; Infections