A Rare Case of Neonatal Hypomagnesemia with Secondary Hypocalcemia Caused by a Novel Homozygous TRPM6 Gene Variant.

BACKGROUND Familial hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disorder (OMIM# 602014) caused by mutations in the gene encoding transient receptor potential melastatin 6 (TRPM6)) on chromosome 9q22, a channel involved in epithelial magnesium resorption. While a plethora of studies have delineated various clinical manifestations pertinent to this mutation, the literature is devoid of connections between TRPM6 mutations and bleeding diathesis, or sudden infant death syndrome (SIDS). This report presents a case of familial HSH associated with the novel homozygous TRPM6 gene variant c.5281C>G p. (Arg1761Gly) chr9: 77354845. CASE REPORT This report details a 26-day-old neonate, born full term with optimal Apgar scores, who experienced an abrupt emergence of apnea, cyanosis, bilateral nasal bleeding, and diminished alertness. Despite the neonate's initially unremarkable clinical birth indicators, a meticulous assessment unveiled a pronounced family history of SIDS, including a sibling previously diagnosed with hypomagnesemia. Laboratory examination of the infant demonstrated severe hypomagnesemia and hypocalcemia, conditions which were promptly ameliorated following intravenous administration of magnesium and calcium. Whole-exome sequencing identified a homozygous TRPM6 gene mutation c.5281C>G p. (Arg1761Gly) at chr9: 77354845. This gene is crucial for magnesium regulation. The mutation involves a cytosine-to-guanine shift, resulting in an arginine to glycine amino acid substitution at position 1761 of the TRPM6 protein. CONCLUSIONS This report has highlighted that infantile hypomagnesemia may be associated with symptoms and signs that can mimic infection, or it can present with seizures. Although familial HSH is a rare genetic disorder that can be identified by genetic testing, correction of hypomagnesemia is the most important and immediate clinical management strategy.

Malignant Pleural Effusion in Pediatrics: A Rare Presentation.

Pleural effusion is the most common presentation of pleural diseases. It is relatively common in children with two predominant types: exudative and transudative effusions. In children, exudative types are the most common with bacterial infection being the most prevalent cause. In some cases, effusion could be difficult to confirm. We describe two patients with a similar age group who presented with respiratory distress in the form of fever, cough, and shortness of breath. They were managed clinically and radiologically as cases of parapneumonic effusion. Both were started on antibiotics with no improvement. After reviewing the cases, it was discovered that some crucial aspects of the history and physical examination that were essential to reach the correct diagnosis had not been taken into consideration. Parapneumonic effusion should be taken with caution, meticulous history and examination are warranted, and lymphocytic-predominant effusion is very alarming for potential malignancy in the absence of tuberculosis infection. If the antibiotic medication yields no significant improvement, earlier referral should be considered.

Extremes of Anemia: The Lowest Hemoglobin Values Probably Ever Reported in the Pediatric Literature Attributed to Iron Deficiency Anemia.

BACKGROUND Iron deficiency anemia is the most widespread, preventable, and treatable cause of anemia in children. Potential causes of iron deficiency anemia are prolonged breastfeeding with poor quality of introduced solid food and the use of whole cow milk instead of iron-rich formula. We describe 2 unusual cases of nutritional iron deficiency anemia with profound low level of hemoglobin around 1 g/dl, with similar diagnosis and different hospital course. CASE REPORT First case: A 20-month-old Saudi boy presented with symptoms of acute gastroenteritis. He was noted to be very pale, with extremely low hemoglobin value of 1.1 g/dl. His nutritional status mostly consists of breastfeeding, with poor iron-rich food. He was admitted to the pediatric intensive care unit with a complicated hospital course of reversible cardiomyopathy and gut involvement. Second case: A 26-month-old Saudi girl presented with complaints of severe pallor and fatigability for 2 months, with critical result of extreme low level of hemoglobin 1.2 g/dl. A detailed nutritional history revealed being exclusively on pasteurized cow's milk with no solid food intake for 6 months. CONCLUSIONS Neglected cases of nutritional iron deficiency anemia may lead to profoundly low levels of hemoglobin. Possible manifestations include heart failure and gastrointestinal involvement in the form of leaky gut syndrome or exudative enteropathy. IV iron therapy was a very effective treatment in both patients. To our knowledge, probably no reported cases of severe iron deficiency anemia reaching this extremely low level of hemoglobin with multiple associated complications exist in the pediatric literature.

A 4-Month-Old Girl with Persistent Respiratory Distress and Multiple Admissions to the Pediatric Intensive Care Unit Due to a Congenital Bronchogenic Cyst.

BACKGROUND Bronchogenic cysts are foregut duplication cysts that result in congenital cysts of the tracheobronchial tree. They can be fatal especially, if they present in early infancy. Persistent respiratory distress is the most frequent reported presentation. Histologically, bronchogenic cysts are unilocular fluid-filled lesions that are composed of respiratory epithelium. This report presents the case of a 4-month-old girl with persistent respiratory distress and multiple admissions to the Pediatric Intensive Care Unit (PICU) due to a congenital bronchogenic cyst. CASE REPORT We describe a 4-month-old girl with persistent respiratory distress, intermittent chocking, and recurrent PICU admissions. The patient was managed as a case of bronchiolitis, which led to ineffective treatment numerous times. Radiological work-up revealed unusual findings of asymmetrical hyperinflation. Bronchoscopy, which was performed to clear the airway and retrieve a possible foreign body, showed a non-pulsatile mass compressing the entry of the main bronchi with more pressure on the left main bronchus, raising the possibility of an external compression. A bronchogenic cyst was suspected and confirmed with high-resolution computed tomography (HRCT). Surgical intervention was performed, with no reported complications. CONCLUSIONS This report has shown that in neonates presenting with respiratory distress and no signs of infection, a broad differential diagnosis including congenital cysts should be considered. As in this case, lung and thoracic imaging are required to confirm the diagnosis. We also highlight the need to involve subspecialities to avoid potential delay in diagnosis or exposing patients to unexpected complications.