Loeys-Dietz syndrome and Goldenhar syndrome unveiled together.

Haemifacial microsomia is an asymmetrical congenital tissue malformation developed from the first and second branchial arches with or without multi-system involvement. Alternatively recognised as Goldenhar syndrome or oculoauriculovertebral spectrum (OAVS), it is an aetiologically heterogeneous group of disorders showing dominant trends in inheritable form.We present a case of a boy in early childhood with concomitant craniofacial features of craniofacial microsomia with Loeys-Dietz syndrome. He had a unilateral hypoplastic face, asymmetrical ear malformations and multiple preauricular tags with epibulbar dermoid (features suggestive of Goldenhar syndrome). On detailed clinical evaluation, he met Beighton's criteria and was diagnosed with arterial tortuosity. Further molecular testing confirmed the diagnosis of Loeys-Dietz syndrome type II.Loeys-Dietz syndrome is characterised by aortic root enlargement or type A dissection with or without other vascular malformations and facial midline defects. Molecular testing is required to establish the diagnosis because of overlapping features with other connective tissue disorders.

Association of vitamin D with disease severity in infants with bronchiolitis.

Vitamin D's role in immune system regulation and its contribution to host defenses against respiratory infections may have implications for bronchiolitis pathophysiology. This cross-sectional study aimed to determine the association between the clinical severity of bronchiolitis and serum vitamin D levels in infants. Infants aged 1 month to 12 months, diagnosed with bronchiolitis, and healthy controls attending routine immunization were enrolled. Baseline characteristics were recorded, including clinical details, bronchiolitis severity, and course during hospital stay. Bronchiolitis severity score (BSS) was used to score the severity. A 1-2 ml serum sample was obtained for vitamin D levels estimation. The median age of cases (n = 64; 65.6% male) was 5 [3, 8] months, and that of the control group (n = 30) was 3 [2, 9] months. No statistically significant differences were observed between the two groups in age, gender, weight, mode of delivery, family history of atopy/asthma, feeding pattern, smoke exposure, and daily vitamin D supplementation. The median vitamin D levels were not significantly different between the groups (p = 0.68). Among infants with bronchiolitis, 62.5% had vitamin D insufficiency (≤ 20 ng/ml). A significantly higher median BSS indicates that infants with vitamin D insufficiency exhibited more severe disease (p = 0.019). Although a negative correlation between BSS and vitamin D levels was noted, it did not reach statistical significance [rs = (-)0.17; p = 0.16]. CONCLUSION:  Infants with Vitamin D insufficiency experienced more severe bronchiolitis with elevated BSS scores. It highlights the potential role of vitamin D deficiency in severe bronchiolitis. WHAT IS KNOWN: • Vitamin D level is low in infants with bronchiolitis. WHAT IS NEW: • Infant with low vitamin D level experienced more severe bronchiolitis.

Distinctive Clinico-electrographic and Radiological Profile of Childhood and Adolescent Seizures.

AIM: Electroencephalogram (EEG) is specific, but not sensitive, for the diagnosis of epilepsy. This study aimed to correlate the clinico-electrographic and radiological features of seizure disorders in children attending a tertiary care centre in northern India. METHODS: Children aged between one to 18 years with seizure episodes were included. Clinical details, including historical as well as physical findings, were evaluated along with EEG and neuroimaging (Magnetic resonance imaging). Details were noted on pre-designed proforma. Variables were analysed by using appropriate statistical methods. RESULTS: A total of 110 children with seizures were enrolled in the study. Male to female ratio was 1.6: 1, and the mean age of the study children was 8 years. The majority of the children were symptomatic for more than one year. The most common seizure type was Generalised Tonic Clonic Seizure (GTCS), and Hypoxic-ischemic Encephalopathy (HIE) sequelae was the most commonly attributed etiology, followed by neurocysticercosis. EEG and neuroimaging findings were found to correlate well with seizure semiology from history. The incidence of febrile seizures was 10% in this study, with nearly three-fourths of them being simple febrile seizures. CONCLUSION: Microcephaly and developmental delay were the most distinctive clinical correlates in children with seizures. There was a fair agreement between the types of seizures described in history and depicted on EEG with Cohen's kappa of 0.4. Also, there was a significant association between the type of seizures on EEG and the duration of symptoms.

Utility of systemic immune-inflammation Index as a serum biomarker to differentiate between complicated and simple para-pneumonic effusion.

The systemic immune-inflammation index (SII) is a novel inflammatory biomarker. Simple and complicated para-pneumonic effusion (PPE) are two significant complications of pneumonia. We evaluated the efficacy of the systemic immune inflammation index (SII) to differentiate between the two. Records of all children up to 18 years of age admitted between April 2019 and September 2022 and diagnosed with Simple or complicated PPE were retrospectively evaluated. SII and other biomarkers were compared between both groups. ROC with the Youden index was used to estimate the discriminative value of SII. Fifty children were enrolled with a median (IQR) age of 81.5 (36.7, 133.5) months; 31 (62%) were male. Thirty-one (62%) had complicated PPE, and 19 (38%) had simple PPE. SII was significantly higher in complicated PPE (p=0.007). Good areas under the curve (AUCs) were found for CRP (0.771) and SII (0.736) to differentiate complicated from simple PPE. The best cut-off value for SII to differentiate complicated PPE from simple PPE was 1557×103µL, with a sensitivity of 82.4% and specificity of 57.6%. SII can be used as a screening tool to differentiate between complicated and simple PPE at the time of presentation.

Evaluation of Chronic Cough in Children Using Management Algorithm: A Prospective Cohort Study.

OBJECTIVE: To assess the use of a standardized evaluation algorithm [American College of Chest Physician (ACCP) 2006] in children with chronic cough. METHODS: In this prospective cohort study, children with chronic cough were evaluated as per the ACCP 2006 diagnostic algorithm. All children were followed regularly at an interval of 2-4 wk. The study's endpoint was for the patient being cough free for four weeks either following treatment or naturally. RESULTS: The mean age of the 87 studied children (52 male, 35 female) was 11.9±3 y. Forty children (45.9%) had specific cough pointers on history and examination. Radiograph showed abnormalities in 12 (13.8%) children, and spirometry showed a reversible obstructive pattern on spirometry in 6 (6.9%) among 47 (54%) children without specific cough pointers. After a detailed evaluation, 16 (18.3%) children had no remarkable findings and were reviewed after two weeks. Spontaneous resolution of cough occurred in 6 children. A trial of inhalational corticosteroids (ICS) (9 children) or antibiotics (1 child) was given to the rest of the ten children. Specific underlying diagnoses could be established in 80 (91.9%) children. The most common etiology identified in the study was asthma and asthma-like illnesses (n = 52; 59.8%), followed by upper airway cough syndrome (n = 13; 14.9%) and tuberculosis (n = 9; 10.4%). Eighty-four (96.5%) children had complete resolution of cough during follow-up. The mean time to resolution in the study was 33.6±16.8 d. CONCLUSIONS: This study demonstrated that the ACCP 2006 algorithm is effective in establishing the underlying etiology and managing children with chronic cough.

Magnetic resonance imaging brain yield in developmental delay: A developing country perspective.

BACKGROUND: Developmental delay (DD) is an important neuro-morbidity in children affecting the quality of life. MRI plays a crucial role by delineating the underlying structural, metabolic, and genetic abnormalities. AIM: To determine the yield of MRI brain in delineating the various underlying abnormalities and etiological factors in children with DD and to correlate these findings with the clinical presentation. METHODS: This cross-sectional study enrolled 50 children with the developmental delay between 6 months to 6 years of age. OUTCOMES AND RESULTS: The mean age was 31.32 ± 20.56 months. The sensitivity of MRI was 72%. 81.3% of the children with microcephaly had abnormal MRI. The most common underlying etiology was hypoxic-ischemic encephalopathy (42%), followed by congenital/developmental defects and metabolic diseases (10% each). The most commonly involved region of the cerebral cortex was the occipital lobe (44%) because of the high occurrence of coexisting hypoglycemic brain injury, which is extremely common in developing countries and rare in developed countries, with 80% of them having visual abnormalities. Frontal lobe involvement was significantly more in children with abnormal motor findings and behavioral changes. Cortical grey matter abnormalities were significantly more in children with seizures. CONCLUSION AND IMPLICATIONS: It is to be emphasized that children with developmental delays should be evaluated with MRI whenever possible. Apart from hypoxic-ischemic encephalopathy, other etiologies should also be looked for.

Magnetic Resonance Spectroscopy in Children With Developmental Delay: Time to Look Beyond Conventional Magnetic Resonance Imaging (MRI).

Developmental delay (DD) is an important long-term neuromorbidity owing to various insults to the developing brain and neuroimaging plays a key role in evaluating these children. Magnetic resonance spectroscopy (MRS) is the only noninvasive method to determine the levels of various metabolites in the brain which aids in delineating the underlying abnormalities. A total of 48 children aged between 6 months to 6 years with developmental delay were included and evaluated with neuroimaging in our study. Sensitivity of MRS in children with DD and DD plus (DD along with seizures, abnormal motor findings, behavior, brainstem evoked response audiometry, visual assessment, and microcephaly) was 81.2% and 89.6% respectively. 86.6% of children with microcephaly had abnormal MRS. MRS detected abnormalities in two-thirds of children with normal magnetic resonance imaging (MRI). Children with behavioral abnormalities had significantly lower N-acetyl aspartate (NAA)-creatine and NAA-choline ratios on MRS. Thus, MRS is additive to MRI in delineating the underlying pathophysiology in children with DD.

Poncet's Disease: A Case Report.

Tuberculosis (TB) is an infectious disease caused by Mycobacterium tuberculosis (MTB). It spreads from one person to the another through the air while coughing, spitting, speaking or sneezing. TB most commonly affects lungs but it can affect any organ system. Diagnosis of TB is made on the basis of microbiological evidence of MTB on microscopic examination, cultures and chest X-rays. Poncet's disease is a separate entity in which joints are involved in the form of joint pain and swelling without any microbiological evidence of MTB. It usually occurs in the background setting of pulmonary TB. This case focuses on importance of considering Poncet's disease in the differential diagnosis of paediatric polyarticular arthritis in TB endemic regions or if there is a history suggestive of TB exposure and infection.

Gross hematuria: A rare presentation of disseminated tuberculosis.

Tuberculosis (TB) is a multi-systemic disease instigated by Mycobacterium tuberculosis that can involve any organ. In any child presenting with clinical features involving multiple organ systems, TB forms an important differential. This holds particularly for endemic countries like India. Genitourinary TB (GUTB) comprises up to 27% of all extrapulmonary TB cases. We present an unusual presentation of disseminated TB involving kidneys and presenting as gross hematuria. 12-year-old girl, presented with recurrent episodes of gross hematuria of one-month duration. She received multiple packed cell transfusions for the same. She had chronic malnutrition. USG KUB with renal doppler was normal. Given persistent hematuria, CT urography was done which showed features suggestive of papillary necrosis with cystitis. Tubercular workup showed multiple opacities predominantly involving perihilar regions bilaterally on chest x-ray along with positive Mantoux test. Sputum for AFB was positive for tubercular bacilli. Urine samples were also sent for CBNAAT which showed TB bacilli sensitive to rifampicin. With a diagnosis of disseminated TB, antitubercular therapy (ATT) was started followed by cystoscopic resection of inflamed bladder wall tissue. Bladder mucosal biopsy confirmed caseating granulomas suggestive of tuberculous cystitis. The patient is doing well and symptom-free after completion of ATT.

Pulmonary Hemosiderosis in a Child With Systemic Lupus Erythematosus: A Rare Presentation.

Pulmonary hemorrhage is an uncommon manifestation in children and is often associated with systemic lupus erythematosus. We report a case of an adolescent girl who presented to our hospital with recurrent episodes of fever, cough, and breathlessness. Later on, she was diagnosed with pulmonary hemosiderosis as a manifestation of systemic lupus erythematosus. She was started on immunosuppressive therapy initially with prednisolone and subsequently with azathioprine and hydroxychloroquine, which improved the clinical status of the child.