Kartagener’s syndrome, an autosomal recessively inherited disorder, is a subgroup of primary ciliary dyskinesias. This genetic disorder manifests from early life which distinguishes it from acquired mucociliary disorders. Kartagener’s syndrome presents as a classical triad of situs inversus, sinusitis and bronchiectasis occurring majorly due to impaired ciliary motility. Here we report a case of a four year old female child who presented to us with repeated episodes of cough and intermittent breathlessness for the past three years. Clinical examination revealed bilateral coarse basal crepitations and apex beat on right fifth intercostal space in the midclavicular line. A thorough investigation revealed situs inversus, chronic sinusitis, and bilateral bronchiectasis. The patient underwent a high-speed video microscopy analysis which was suggestive of primary ciliary dyskinesia. Considering these findings, the patient was diagnosed as a case of Kartagener’s syndrome.
Introduction: Cleft lip and/ or cleft palate are the most common visible craniofacial anomalies. These patients often have feeding difficulties and recurrent infections leading to an altered immune system which can be assessed by the variations in hematological parameters. We intended to assess the clinical profile and the hematological parameters in patients with cleft lip and palate. Methods: This is a three-year cross-sectional study conducted at SGT Medical College, Gurugram, Haryana, India from January 2017 to December 2019 involving assessment of patients with cleft lip and palate who visited the paediatric unit for complete evaluation before surgery. Syndromic children or those with associated deformities were excluded .A total of 115 patients were enrolled in the study and the following information was recorded: Age, Gender and type of cleft (Cleft lip and alveolus, cleft lip, alveolus and palate, and isolated cleft palate). Hematological parameters including hemoglobin, total leukocyte count, differential leukocyte count, absolute eosinophil count, and red cell indices were evaluated and compared amongst the anatomical subtypes. Results: A total of 115 patients were included in the study, of which 66 (57.4%) were males and 49 (42.6%) were females. 57 (49.6%) had a cleft lip, alveolus, and palate, 36 (31.3%) had a cleft lip and alveolus and 22 (19.1%) had cleft palate only. Anaemia was present in 71.1% of cases. 83.4% cases of cleft lip and alveolus while81.8% of isolated cleft palate were anaemic. Microcytic hypochromic anaemia was present in 63.4% of cases while 36.6% had normocytic normochromic anaemia. The total leukocyte count was elevated in 60 children (52.2%) which was highest in cleft lip and alveolus (66%). Absolute neutrophil count was significantly high in the lip and alveolus groups.(13.9%) Absolute lymphocyte count was highest in lip and alveolus (30.56%). Absolute monocyte count and the absolute eosinophil count was low in the majority of cases. Conclusions: A large number of children with cleft lip and/ or palate are not exclusively breastfed due to anatomical deficits. They need supplemental iron to meet the demands. A standard policy to provide auxillary iron by health care professionals should be made at the first visit to the health centre because nutritional anaemia negatively affects the physical and cognitive development of a child. It also unnecessarily prolongs the date for optimum and safe surgery.
Introduction: Celiac disease is a common immune-mediated enteropathy characterised by villous atrophy. It has clinical phenotypes of classic, non-gastrointestinal and silent/subclinical or potential depending on the clinical phenotype. We intended to assess the clinical features and laboratory findings of patients with celiac disease and compare the classical celiac disease with non-gastrointestinal celiac disease. Methods: This is a two-year cross-sectional study conducted at our institute. Children from one year to 18 years diagnosed as celiac disease based on the revised ESPGHAN criteria were enrolled. They were categorised into classical celiac disease and non-gastrointestinal celiac disease (atypical) and their clinical features and laboratory findings were documented. Results: Forty patients had confirmed celiac disease. The mean age of the subjects was 6.84 ± 4.41 years, with male: female ratio of 1.85. The commonest presentations were failure to thrive (75%), anaemia (70%), associated rickets (67.5%) and 32% diarrhoea. Patients with classical features were identified at an earlier age than those with non-gastrointestinal celiac disease. Marsh grade 3a and above were more commonly seen in classical celiac disease. The most common symptom among the classical group was abdominal distension. Among the non-gastrointestinal group, the most common symptom was anaemia. Vitamin D deficiency was almost equally present in both groups. Conclusions: Non-gastrointestinal celiac disease is not uncommon among our population. Patients with clinical features of recurrent abdominal pain, vomiting, failure to thrive, or merely short stature and refractory anaemia should be worked up for celiac disease.
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