Natural killer cell deficiency (NKD) occurs when decreased levels of such cells lead to major immunological deficiency in the patient. NK cells participate in tumor cell surveillance, viral infections, and immunoregulation in the body. We report a case of a nine-year-old female child, a known case of neuroblastoma amplified sequence (NBAS) gene mutation in the variant c.2819A>C (p. His940Pro), which causes infantile liver failure syndrome type 2 (ILFS2). The patient had been treated at four years of age for a three-day history of vesicular skin rashes in the L2 dermatome of the left leg, with pain and without swelling or redness, ear discharge, low appetite, and decreased activity. Also, she had already had multiple admissions due to different types of infections like viral hepatitis, urinary tract infection, Salmonella bacteremia, gastroenteritis, recurrent hepatitis, follicular tonsilitis, pneumonia, mastoiditis, and varicella-zoster infection. Flow cytometry revealed low levels of CD56 + and CD16 + (2%). Recently, she has shown improvement by gaining weight and appetite following interferon-beta 1a injection.
Brucellosis is a zoonotic disease that can affect multiple organs and tissues in the human body with various clinical presentations; however the thyroid gland is rarely involved. There are many species of Brucella, but only a few can cause symptomatic infections to humans, with Brucella melitenses being the most common. Here we report a case of Brucella induced thyroiditis which presented with pyrexia of unknown origin (PUO) and a neck swelling. The patient had abnormal thyroid function test and a positive Brucella serum agglutination. Early diagnosis and appropriate anti Brucella management showed great response and the patient fully recovered. we hope to shed some light on this rare complication of Brucella infection through our study. We have conducted a literature review of six cases that reported the same condition with some notable differences. We believe that it is crucial to include brucellosis in the deferential diagnosis of any patient presenting PUO especially when there is a positive history of unpasteurized dairy product consumption.
Varicella-zoster virus (VZV; human herpesvirus 3) is a herpesvirus that causes infection in humans. The reactivation of latent VZV manifests as herpes zoster or shingles. In immunocompetent children, reactivation is rare, as increasing age is the most common risk factor for reactivation. The complications of infection include post-herpetic neuralgia and neurological sequelae as well as a bacterial infection of the crusted skin. We present a case of an otherwise healthy 13-year-old child with herpes zoster and multiple risk factors, who was managed successfully, in order to expand the limited literature. The patient presented with a painful vesicular rash, which appeared as multiple grouped vesicles on an erythematous base spreading over the right half of the face. The diagnosis of herpetic (varicella) vesiculobullous dermatitis was confirmed by biopsy and the patient was started on acyclovir and clindamycin with gradual improvement and resolution of his symptoms. Reactivation of VZV is considered a consequence of decreased cell-mediated immunity. However, the reason for reactivation in immunocompetent children remains unclear. In the present case, the patient may have become exposed in utero, through vaccination, or as a result of major facial trauma sustained at the age of six years.
Trisomy 13 was first described by Patau in 1960. It is a rare genetic disease caused by having an extra copy of chromosome 13. Mosaic trisomy 13 happens when a percentage of the cells are trisomic for chromosome 13, while the remaining cells are euploid. Patau syndrome has a limited survival rate, and most of the carriers die before completing the first year of life. Unlike Patau syndrome, mosaic trisomy 13 is known for longer survival. It is associated with central nervous system malformations, cardiac defects, and psychomotor delay. We report a six-year-old male patient, the third child of a first-degree consanguinity. Born at term via emergency cesarean section due to meconium-stained amniotic fluid and fetal distress. Apgar score nine at one minute and nine at five minutes. Initial examination showed typical dysmorphic features like deepseated eyes, small palpebral fissure, low set of ears, high arched palate, short neck, and right-hand polydactyly. The diagnosis was made through chromosomal analysis, and it revealed mosaic trisomy 13.
A 19-month-old boy presented to the general pediatric clinic with delayed development and multiple nutritional deficiencies, after being exclusively breastfed up to the age of nine months without vitamin D supplementation. Upon examination, imaging studies, and lab tests, the patient was diagnosed with nutritional rickets. The management included supplementation of cholecalciferol, ferrous sulfate, calcium carbonate, and multivitamin drops to support his diet, and was encouraged to follow a healthy balanced diet. Upon follow-up at the age of 20 months, the patient showed slight improvement and was able to walk, while at 22 months, the patient was developmentally up to age, and had a good appetite with a slight increase in weight. Despite the high incidence of nutritional deficiencies, there is still a lack of awareness and late presentations of such cases, which can lead to complications if not detected early. This case demonstrates the importance of prevention of similar cases by early education about adequate nutrition to the patients and caregivers and regular follow-ups with the general practitioner for early detection and early supplementation as required.
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