Acute renal failure as a key to significant neonatal weight loss.

We present a case of a male neonate who experienced a 13.5% weight loss at 96 hours of life, despite receiving adequate calorie intake and exhibiting no feeding difficulties. The pregnancy was uneventful, and maternal serological investigation was normal. A routine ultrasound at 34 weeks of gestational age revealed late oligohydramnios. The neonate was delivered at 35 weeks of gestational age by forceps, weighing 2600 g. Physical examination disclosed bilateral cryptorchidism. Laboratory studies unveiled acute kidney injury (AKI) with hyperkalaemia. Renal ultrasound revealed bilateral hydronephrosis and renal dysplasia with pyelocalyceal dilatation. Despite early recognition and treatment, the newborn developed chronic kidney disease (CKD). AKI is an important and under-recognised cause of significant neonatal weight loss.This case underscores the significance of considering AKI as a potential and under-recognised cause of neonatal weight loss. It emphasises the importance of maintaining a high clinical suspicion for early AKI diagnosis to mitigate the risk of progression to CKD.

Congenital SARS-CoV-2 Infection in a Neonate With Severe Acute Respiratory Syndrome.

Coronavirus disease, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is mainly transmitted through droplets, but other ways of transmission have been hypothesized. We report a case of vertical transmission of SARS-CoV-2 in a preterm born to an infected mother, confirmed by the presence of the virus in the neonatal blood, nasopharyngeal and oropharyngeal swabs collected in the first half an hour of life. The neonate presented with acute respiratory distress, similar to the findings in severely affected adults. This case highlights the importance of pregnancy, labor and neonatal period surveillance of affected mothers and their newborns.

MYH9-related disorders: a rare cause of neonatal thrombocytopaenia.

Myosin heavy chain 9-related disorders (MYH9RD) are a genetic condition characterised by large platelets and thrombocytopaenia. The May-Hegglin anomaly (MHA), an uncommon condition with a potential risk of bleeding complications once thought to be separate, is now known to be part of MYH9RD.There are very limited data on the clinical course and neonatal/paediatric outcome in children with MHA. We present the case of a newborn with a normal physical examination whose mother had MHA. Peripheral blood examination revealed a platelet count of 16×109/L with giant platelets and neutrophils containing Döhle bodies. Neonatal brain ultrasound examination showed no haemorrhage. The infant received three platelet transfusions during the first 29 days of life, remaining asymptomatic. The genetic molecular test was positive for MYH9RD. It is important to identify at-risk infants with this condition and to initiate therapy to prevent related complications, if needed, in a multidisciplinary team approach.

An unusual cause of neonatal cyanosis .

We report a case of a female neonate whose pulse oximetry screening for congenital heart disease at 40 h of life was positive. The pregnancy was uneventful with no relevant family history. The neonate presented with bluish discolouration of the skin lasting until day 15. Cardiovascular examination and chest radiography were normal. Septic screening was negative. Oxygen therapy was started with poor response; investigations revealed a methaemoglobinaemia of 7.4%. The methaemoglobin level reached a peak of 15% on day 10, falling thereafter. The infant was discharged by day 20 with a normal physical examination and a methaemoglobinaemia of 11.4%. By 2 months of age this had fallen to 2.4%. Further investigation revealed a haemoglobin M variant: a heterozygous mutation of the γ globin gene known as Hb F-M Viseu. The mutation occurs in the γ chain, therefore the methaemoglobinaemia is transitory, resolving with the transition from fetal to adult haemoglobin.

Hepatic subcapsular haematoma in a premature newborn.

Subcapsular haematoma of the liver rarely occurs in neonates and the diagnosis is often missed or delayed. It is a catastrophic condition that can be caused by maternal, placentar or fetal factors. A high index of suspicion is essential for early identification and stabilisation of babies with such a pathology. In a newborn with hypovolemic shock and abdominal distension, haemoperitoneum should be suspected and, along with exclusion of other aetiologies, supportive therapy should be instituted. The hepatic subcapsular haematoma has a non-specific presentation, and should be considered in very low birth weight infants with hypovolemic shock. Abdominal ultrasonography is the investigation of choice. It can delineate the lesion well, differentiate it from neoplasms, rule out rupture and aid in serial follow-up. We report a premature newborn who had this uncommon condition in the early neonatal period and survived without sequelae.

Congenital malaria in a European country.

A newborn of 26 days, born in Lisbon, Portugal, presented with fever, anaemia and thrombocytopaenia. She was admitted considering neonatal sepsis, but Plasmodium vivax was identified in the second peripheral blood smear performed. Parenteral quinine was started with good evolution. Despite clinicians' unfamiliarity with congenital malaria in non-endemic areas, this diagnosis, although rare, should not be forgotten in the evaluation of newborns/infants born to women from endemic areas or with recent trip to these areas.

Caffey disease in neonatal period: the importance of the family!

A male newborn was apparently well until his second day of life, when increased irritability and a swelling in his right leg were noted. He was rooming-in with his mother since birth. On examination, a mass on the anterior surface of the right leg was noticed. The mass was firm, elongated, ill-defined, unmovable and painful at palpation. No overlying skin changes were seen. The newborn had a family history of neonatal bone swelling with resolution before the age of 2. Subsequent images showed hyperostosis in the diaphysis of the right tibia. After exclusion of other conditions such as trauma, osteomyelitis and congenital syphilis, the involvement of the tibial diaphysis, sparing the epiphyses and the benign course of the disease in family history, were indicative of Caffey disease. The genetic study confirmed this diagnosis. Caffey disease, although rare, should not be overlooked in the diagnostic approach to childhood bone swelling.

An adolescent with sickle cell anaemia experiencing disease-related complications: priapism and leg ulcer--a management challenge.

Sickle-cell anaemia (SCA) is a multi-system disease, associated with episodes of acute illness and progressive organ damage. Disease severity shows substantial variation and it is often a burden for adolescents. Complications such as leg ulcer and priapism have a significant impact on quality of life. There are still no definitive treatment guidelines available. Considering the embarrassing nature of priapism and the dire consequences for erectile dysfunction, it is important to inform patients, parents and providers about the relationship of SCA to prolonged painful erections. This article will review the pathophysiology and treatment options of SCA focusing the complications of leg ulcers, priapism, cholelithiasis and retinopathy. The case study of a 14-year-old boy is used to present a management challenge of multiple SCA-related complications.