DIFFERENTIAL DIAGNOSIS OF INVERSION OF THE TESTICLE IN THE NEONATAL PERIOD

Author(s):  
D.N. Shedrov ◽  
2020 ◽  
Vol 15 (4) ◽  
pp. 100-104
Author(s):  
M.A. Ufimtseva ◽  
◽  
Yu.M. Bochkarev ◽  
A.U. Sabitov ◽  
K.I. Nikolaeva ◽  
...  

We report a case of blueberry muffin syndrome, a rare dermatosis that occurs during the neonatal period. This syndrome is particularly interesting because, despite similar clinical manifestations, it may have various pathological mechanisms and, therefore, requires differential diagnosis. Awareness of doctors of different specialties about clinical manifestations of blueberry muffin syndrome will ensure correct differential diagnosis, timely treatment initiation, no unnecessary therapy, and exclusion of malignant tumors in a child. Key words: neonatal period, blueberry muffin, intrauterine infection of the fetus, TORCH infections, extramedullary hematopoiesis


2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Marie-Louise von Linstow ◽  
Vibeke Rosenfeldt

Hyper IgD syndrome (HIDS) is a rare metabolic autoinflammatory syndrome characterised by recurrent febrile episodes, accompanied by various inflammatory symptoms. We present a case of severe HIDS in a young girl, whose symptoms started in the neonatal period with hepatomegaly, hepatitis, thrombocytopenia, and conjugated hyperbilirubinemia. From the age of five months, the child had recurrent febrile episodes, stomatitis, adenitis, and persistent hepatomegaly. The diagnosis of HIDS was established when she was three years and eight months old. This case report suggests that HIDS should be included in the differential diagnosis of neonatal hepatitis and conjugated hyperbilirubinemia.


2021 ◽  
pp. 1-3
Author(s):  
Mainak Maitra ◽  
Mukesh Kumar Singh

Congenital Choanal Atresia (CA) is the failure in the development in communication between the nasal cavity and the nasopharynx. Its incidence is 1 in 7000 births. The male to female ratio for infants with choanal atresia is 2.2. Approximately two-thirds of cases are unilateral. Structurally there are two main types– a) Osseous-90% b) Membranous. Bilateral CA is an important but rare cause of respiratory distress in newborn. The distress improves with an oral airway. Here 3 paediatric cases of congenital choanal atresia are being discussed. Choanal atresia as a differential diagnosis should always be kept in mind in children presenting with respiratory distress in early neonatal period and in patients presenting with unilateral nasal discharge. Endoscopic surgical technique of choanal atresia repair along with stenting was done in all the 3 cases.


Diagnostics ◽  
2021 ◽  
Vol 11 (9) ◽  
pp. 1549 ◽  
Author(s):  
Valeria Cortesi ◽  
Francesca Manzoni ◽  
Genny Raffaeli ◽  
Giacomo Cavallaro ◽  
Bruno Fattizzo ◽  
...  

Congenital hemolytic anemias (CHAs) are a group of diseases characterized by premature destruction of erythrocytes as a consequence of intrinsic red blood cells abnormalities. Suggestive features of CHAs are anemia and hemolysis, with high reticulocyte count, unconjugated hyperbilirubinemia, increased lactate dehydrogenase (LDH), and reduced haptoglobin. The peripheral blood smear can help the differential diagnosis. In this review, we discuss the clinical management of severe CHAs presenting early on in the neonatal period. Appropriate knowledge and a high index of suspicion are crucial for a timely differential diagnosis and management. Here, we provide an overview of the most common conditions, such as glucose-6-phosphate dehydrogenase deficiency, pyruvate kinase deficiency, and hereditary spherocytosis. Although rare, congenital dyserythropoietic anemias are included as they may be suspected in early life, while hemoglobinopathies will not be discussed, as they usually manifest at a later age, when fetal hemoglobin (HbF) is replaced by the adult form (HbA).


2021 ◽  
pp. 097321792110406
Author(s):  
Bhavya Kukreja ◽  
Ajay Prakash Mehta ◽  
Harsh Wardhan ◽  
Bhawna Sachdeva Narula ◽  
Poonam Sidana

Congenital segmental dilatation of intestine is a rare clinical entity encountered in neonates with very few case reports from world over. It usually presents with symptoms of partial or total obstruction in neonatal period or infancy. We report a case of a preterm baby with segmental dilatation of intestine which was managed surgically. Diagnosis was confirmed intraoperatively as well as histologically. Consideration of this entity in differential diagnosis of neonatal intestinal obstruction may enable for better understanding and more reporting of this rare condition.


PEDIATRICS ◽  
1953 ◽  
Vol 11 (5) ◽  
pp. 502-514
Author(s):  
ROBERT D. MERCER ◽  
SARAH LUSE ◽  
DONALD H. GUYTON

A case of generalized cytomegalic inclusion disease is described in which, for the first time, the diagnosis was established during the life of the patient. The clinical syndrome is delineated and the differential diagnosis discussed. It is suggested that the diagnosis of the syndrome can be made clinically in the neonatal period by study of the urine sediment.


2021 ◽  
Vol 100 (5) ◽  
pp. 82-89
Author(s):  
M.A. Zhestkova ◽  
◽  
D.Yu. Ovsyannikov ◽  

The literature review provides up-to-date information on rare interstitial lung diseases, manifesting both in children, starting from the neonatal period, and in adults, – genetic disorders of surfactant proteins B, C, ATP-binding cassette protein A3 (ABCA3), manifested by such histopathological patterns, as chronic pneumonitis of infants, pulmonary alveolar proteinosis, desquamative interstitial pneumonia , nonspecific interstitial pneumonia. Information on epidemiology, genetics, pathogenesis, clinical picture, diagnosis and differential diagnosis, treatment of these diseases is given.


2011 ◽  
Vol 9 (4) ◽  
pp. 534-537
Author(s):  
Fernando Bastos ◽  
Liliana Thaureaux Pérez ◽  
Caridad Ponce de León Narváes ◽  
Olívia Costa ◽  
Maria Ódia Inácio de Sousa e Silva ◽  
...  

ABSTRACT The authors present a case of panniculitis in a newborn, a rare disease in the neonatal period discussing its causes and differential diagnosis, emphasizing a possible diagnosis of erythema nodosum.


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