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.

Anatomical Distribution Patterns of Peripheral Arterial Disease According to Patient Characteristics: A Unicentral Cohort Study.

Purpose: Peripheral arterial disease (PAD) is a common disease with multiple risk factors and affects patients worldwide. Several international studies have established correlations between anatomical topography/distribution of atherosclerosis and comorbidities in patients with PAD. In this cohort study, we aimed to analyze the patterns of atherosclerosis (site, distribution, and degree) in patients who underwent lower limb computed tomography angiography and arterial angiography by identifying the atherosclerotic plaque(s) that were possibly responsible for thrombi. Additionally, we aimed to determine any relationship between comorbidities and identified patterns. Patients and Methods: Between January 2015 and January 2021, we retrospectively recruited 140 patients at King Fahd Hospital of the University of Saudi Arabia. Data collected included patient characteristics, risk factors, and metabolic disorders, such as hypertension (HTN), diabetes mellitus (DM), dyslipidemia, and chronic kidney disease. Patients with incomplete records or unavailable radiological images were excluded. Results: The infrapopliteal territory was the most common segment that was affected. HTN, DM, and dyslipidemia were found in 81.4%, 77.9%, and 62.9% of patients, respectively. Correlation analyses revealed that DM was the only independent metabolic disorder associated with a PAD distribution pattern in the femoropopliteal segment (p=0.039), thus denoting distal involvement. No significant association was found between PAD distribution and the severity of stenosis. Conclusion: Segmental involvement in PAD varies with the risk factors and metabolic comorbidities present in patients. DM is an independent predictor of the anatomical distribution of PAD. The identification of such an anatomical distribution is paramount for screening procedures, early detection of disease, and prevention of complications, particularly limb amputation.

Isolated Tracheabronchomalacia Misdiagnosed for Years as Bronchial Asthma.

Tracheomalacia (TM) is an abnormal collapse of the tracheal lumen, which often occurs when the cartilaginous part of the trachea has not developed. It is a rare condition but is seen often in infancy and childhood period. The incidence of primary airway malacia in children was estimated to be at least one in 2,100. It has a wide range of etiologies, and it is often localized but rarely generalized as in our case. It could be severe enough to indicate frequent admission and might expose the patient to multiple unnecessary medications. We are reporting a case with unusual primary tracheobronchomalacia (TBM) that was missed for several years with a huge burden on both families and healthcare providers. A five-year-old Saudi girl had multiple admissions to the intensive care unit with similar presentation each time, and she was misdiagnosed as having asthma exacerbation with an occasional chest infection. Bronchoscopy revealed the underlying condition, and the patient was kept on the minimal intervention of nasal continuous positive airway pressure (CPAP) and aggressive airway hydration therapy, all with the goal of improving the patient's outcome and reducing hospital admissions. We emphasize the importance of alerting physicians about malacia as an important cause of recurrent wheezy chest, which is one of the common asthma mimickers; in such cases, flexible bronchoscopy remains the gold standard diagnostic test, while the treatment remained supportive.

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.