A rare case of steroid 11 beta-hydroxylase deficiency in a child revealed by acute pulmonary edema.

We report the case of a 5-year-old boy diagnosed with congenital adrenal hyperplasia due to 11-hydroxylase deficiency, revealed by disorders of sex development (DSD) and acute pulmonary edema due to severe hypertension. We considered the diagnosis based on biological and radiological examinations. The sociocultural background and the delayed diagnosis had a significant impact on the therapeutic decisions. All babies should be screened for 11 beta-hydroxylase deficiency, there should be specialized and interdisciplinary medical centers, and early detection is essential to avoiding serious complications of this disease.

A Case of Scurvy in a Child: An Uncommon but Important Diagnosis to Consider.

Scurvy is a rare disease resulting from a prolonged ascorbic acid deficiency. It commonly affects individuals with low incomes and limited access to fresh fruits and vegetables. The diagnosis of scurvy can be challenging for clinicians due to the non-specific symptoms, resulting in extensive investigations and a delayed diagnosis. We report the case of a 14-year-old girl who presented with symptoms of pallor, bone pain, inability to walk, petechiae, ecchymosis of the lower limbs, irritability, and swollen, bleeding gums. Initially, the symptoms raised suspicions of hematopoietic malignancies, such as leukemia, and the patient underwent a series of invasive diagnostic exams before arriving at the correct diagnosis. Following a detailed dietary anamnesis with the parents, it became evident that the patient had a limited intake of fresh fruits and vegetables. A vitamin C blood test confirmed the diagnosis of scurvy. The prompt resolution of the clinical symptoms after the administration of vitamin C provided further confirmation of the diagnosis. This case highlights the importance of considering a patient's medical history and symptoms rigorously to avoid unnecessary, expensive, and invasive medical procedures, as well as to prevent potential misdiagnosis.

Pediatric Inflammatory Multisystem Syndrome Temporally Associated With SARS-CoV-2 (PIMS-TS) and Serous Effusions in a Child With Severe Hypoalbuminemia: A Case Report.

In April 2020, Pediatric Inflammatory Multisystem Syndrome temporally associated with severe acute respiratory syndrome coronavirus 2 or SARS­CoV­2 (PIMS-TS) was described for the first time in children. Since then, many countries have registered hundreds of cases with clinical similarities to Kawasaki disease. We report the case of a five-year-old boy diagnosed with PIMS-TS who presented myocarditis with serous effusions (pleurisy, ascites, pericarditis) due to severe hypoalbuminemia. This case sheds light on the importance of hypoalbuminemia in evaluating the severity of PIMS-TS and preventing its complications. The patient was successfully treated with intravenous immunoglobulins and oral prednisone.

Complicated primary intestinal lymphangiectasia (Waldmann's disease) in a child successfully treated with octreotide: A case report from a low-resource setting.

INTRODUCTION AND IMPORTANCE: The primary intestinal lymphangiectasia is a rare exudative enteropathy of unknown etiology that affects the lymphatic system. It causes lymphedema and malabsorption syndrome by the escape of the lymph and its elements into the intestinal lumen. CASE PRESENTATION: A female patient, diagnosed at the age of 11 with Waldmann's disease, has initially manifested chronic diarrhea with a stature-ponderal delay at the age of 6 months old; she was treated for a long time as celiac disease patient. Edematous syndrome, chronic diarrhea, staturo-ponderal delay and asymmetric lymphedema of the upper limb are the main clinical symptoms in this case. In addition, the exclusion of secondary intestinal lymphangiectasia was important for the diagnosis. Before and during her follow-up, the patient presented two complications of the disease: warts and osteomalacia. The patient did not respond to treatment with the low-fat diet; therefore, the need to add treatment with octreotide was necessary, which has given quite pleasant results. Octreotide was the therapeutic choice to treat the patient as she was resistant to the appropriate regimen with clinical improvement; nevertheless, certain biological elements of lymphatic leakage persisted. DISCUSSION: Waldmann's disease is rare. It can be responsible, besides the typical signs, for complications including warts and osteomalacia. The histopathological study of intestinal biopsies may be normal if lymphangiectasias are localized. The treatment is based on a nutritional diet associated with octreotide. During the patient's follow-up, the evolution after almost two years of the introduction of octreotide compared to the diet alone showed improved outcomes. CONCLUSION: The treatment of Waldmann's disease is based on an adapted diet and octreotide. This case highlighted the importance of the long term follow-up in this disease.

Atypical Kawasaki Disease in an Adolescent with Multivisceral Involvement.

Kawasaki disease (KD) is a vasculitis mostly seen in children aged less than 5 years. It can involve different organs and tissues. Its diagnosis is based on the clinical criteria of the American Heart Association (AHA). We report a case of a Moroccan adolescent with an atypical presentation of KD initially treated as typhoid fever. Gastrointestinal, renal, and pulmonary signs were the main clinical findings that made the diagnosis of KD challenging and delayed. The consequence was a severe cardiac damage with myocarditis and coronary artery dilation. KD is uncommon in adolescents, and it is important to recognize the atypical forms and the different presentations of KD in order to prevent the delay of diagnosis and treatment, and hence the cardiac complications.