scholarly journals Blueberry muffin syndrome in a newborn

2020 ◽  
Vol 15 (4) ◽  
pp. 100-104
Author(s):  
M.A. Ufimtseva ◽  
◽  
Yu.M. Bochkarev ◽  
A.U. Sabitov ◽  
K.I. Nikolaeva ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Key Words ◽  
Treatment Initiation ◽  
Neonatal Period ◽  
Malignant Tumors ◽  
Clinical Manifestations ◽  
Intrauterine Infection ◽  
Extramedullary Hematopoiesis ◽  
Timely Treatment ◽  
Torch Infections

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

scholarly journals Problems of differential diagnosis of focal brain lesions in patients with HIV infection

2020 ◽  
Vol 12 (1) ◽  
pp. 35-39
Author(s):  
M. Yu. Fomina ◽  
M. A. Titova
Keyword(s):  
Differential Diagnosis ◽  
Hiv Infection ◽  
Malignant Tumors ◽  
Clinical Manifestations ◽  
B Cell Lymphoma ◽  
Adverse Outcomes ◽  
Cns Lymphoma ◽  
Cerebral Toxoplasmosis ◽  
Therapy Regimen ◽  
Perinatal Hiv

Currently, the leading cause of social disadaptations and disability of patients at advanced stages of HIV infection, as well as adverse outcomes, is the presence of severe comorbid variants of the course of HIV infection: HIV and co-infection of chronic viral hepatitis, tuberculosis, HIV and malignant tumors, and HIV-associated neurological diseases. In pediatric practice, the combination of HIV-induced and perinatal CNS lesions is the most relevant. The differential diagnosis of these conditions is complicated due to the polymorphism of clinical manifestations and the possibility of combining several pathological conditions simultaneously in patients. Neuroimaging data does not always have clear criteria for determining the exact cause of cerebral damage. The article presents data of own clinical neuroimaging observations of two patients with perinatal and parenteral HIV infection. The nervous system damage was polyetiological in nature and was presented in one case by a combination of HIV-encephalitis, cerebral toxoplasmosis and CNS lymphoma, in the second by the presence of Bourneville-Pringle disease (tuberous sclerosis) with the formation of giant-cell astrocytoma and HIV-induced brain damage. It should be noted that the optimization of the antiretroviral therapy regimen in the case of a combination of B-cell lymphoma and cerebral toxoplasmosis in a child with perinatal HIV infection led to clinical and laboratory remission

scholarly journals Noncompaction of left ventricle - a rare cardiomyopathy

2021 ◽  
Vol 9 (1) ◽  
pp. 116
Author(s):  
Parth K. Thakkar ◽  
Mahesh Bhatt ◽  
Sheela Bharani Chawla ◽  
Hitesh Desai
Keyword(s):  
Differential Diagnosis ◽  
Early Detection ◽  
Left Ventricle ◽  
Cardiac Failure ◽  
Clinical Manifestations ◽  
Unknown Origin ◽  
Left Ventricular ◽  
Left Ventricular Cavity ◽  
Foetal Development ◽  
Timely Treatment

Non-compaction of left ventricular (NCLV) is a rare cardiomyopathy of unknown origin characterized by prominent ventricular trabeculations and deep intertrabecular sinusoids, in communication with the left ventricular cavity. The NCLV results due to failure of compaction during foetal development. In this study, five children were diagnosed with NCLV out of 135 cases of cardiomyopathy and the youngest case was diagnosed at 27th day of life. Congestive cardiac failure presenting as tachycardia and tachypnea were common clinical manifestations. Early detection of NCLV helps patients to get timely treatment. NCLV should be considered as one of the differential diagnosis amongst cases of cardiomyopathy.

scholarly journals Syndrome of ectopic ACTH secretion in a patient without a verified tumor

2018 ◽  
Vol 15 (3) ◽  
pp. 59-64
Author(s):  
Ekaterina V. Ershova ◽  
Evgeniya S. Senyushkina ◽  
Ekaterina A. Troshina
Keyword(s):  
Clinical Picture ◽  
Malignant Tumors ◽  
General Structure ◽  
Clinical Manifestations ◽  
Ectopic Acth Syndrome ◽  
Acth Secretion ◽  
Ectopic Acth ◽  
Ectopic Acth Secretion ◽  
Primary Focus ◽  
Timely Treatment

Рrevalence of endogenous hypercortisilism is about 56 cases per 1 million people. ACTH-dependent hypercortico- sis in the general structure is about 80%. Among this cohort of patients in 7075% the cause of hypersecretion of ACTH is corticotrophinoma, about 10% are diagnosed with hyperplasia of corticotrophs, in the remaining 1520% neuroendocrine tumors of different locations, producing ACTH and / or corticoliberin. With ectopic ACTH syndrome the development of clinical manifestations is faster than with corticotropinoma, which determines the nature of the clinical picture. Difficulties in identifying the primary focus hypersecretion of ACTH may be due to its small size, absence or nonspecificity of the clinical picture from the primary focus, early metastasis in the case of malignant tumors. Besides, clinical manifestations of hyper- cortisolism can be considered and as independent nosological units, which creates certain difficulties at the stages of early diagnosis and timely treatment of ectopic ACTH syndrome.

Giant teratoma on the anterior surface of the neck that required simultaneous removal of the thyroid and parathyroid glands in a newborn

2021 ◽  
Vol 16 (3) ◽  
pp. 115-120
Author(s):  
L.I. Zakharova ◽  
◽  
D.V. Pechkurov ◽  
N.S. Koltsova ◽  
A.S. Seryogin ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Key Words ◽  
Healthcare Professionals ◽  
Clinical Manifestations ◽  
Immature Teratoma ◽  
Parathyroid Glands ◽  
Comprehensive Treatment ◽  
Simultaneous Removal ◽  
Anterior Surface ◽  
Pediatric Surgeon

We report a case of giant teratoma on the anterior surface of the neck that required simultaneous removal of the thyroid and parathyroid glands in a newborn. We provided the description of clinical manifestations, surgery (performed on day 2 after birth), differential diagnosis, and comprehensive treatment. Several healthcare professionals were involved the management of this patient, including neonatologists, a maxillofacial surgeon, an otorhinolaryngologist, a pediatric surgeon, an endocrinologist, and an oncologist. Key words: neck tumor, immature teratoma, hypothyroidism, hypoparathyroidism

Ultrasonic differential diagnostics of cyst and cystic tumors of the spleen

2020 ◽  
Vol 24 (3) ◽  
pp. 63-75
Author(s):  
Yu. A. Stepanova ◽  
M. Z. Alimurzaeva ◽  
D. A. Ionkin
Keyword(s):  
Differential Diagnosis ◽  
Cancer Metastasis ◽  
Malignant Tumors ◽  
Dynamic Control ◽  
Differential Diagnostics ◽  
Epithelial Lining ◽  
Focal Lesions ◽  
Morphological Form ◽  
Cystic Tumors ◽  
Number Of Patients

The incidence of focal lesions in the spleen is 3.2–4.2% per 100,000 population. Spleen cysts are rare (incidence 0.75 per 100,000). These are single or multiple, thin- and smooth-walled cavities filled with a transparent liquid. Distinguish between primary (or true) cysts, lined with epithelium, and secondary (or false), devoid of epithelial lining. Among the primary cysts, there are congenital cysts formed in the embryonic period due to the migration of peritoneal cells into the spleen tissue, dermoid and epidermoid cysts. A special group of primary cysts are parasitic cysts. Cystic tumors of the spleen include lymphangioma and lymphoma.The main difficulties in the diagnosis and differential diagnosis of cysts and cystic tumors of the spleen are associated with the rarity of this pathology and, as a consequence, a small number of works, including a significant number of the cases. However, in those works where a large number of the cases are described, most often this is one morphological form and an analysis of its various characteristics.Purpose. Based on the analysis of our own examination data of a significant number of patients with cysts and cystic tumors of the spleen, to assess the possibility of differential diagnosis of individual morphological forms according to ultrasound data.Materials and methods. 323 patients with cysts and cystic tumors of the spleen from 15 to 77 years old (men – 105 (32.5%); women – 218 (67.5%) were treated at A.V. Vishnevsky National Medical Research Center of Surgery for the period from 1980 to 2020. All patients underwent ultrasound during examination. Surgical treatment was carried out in various ways – (85.1%), when making a preoperative diagnosis of an uncomplicated spleen cyst of small size, dynamic observation was carried out (verification by puncture biopsy data).Results. Morphological verification of cysts and cystic tumors of the spleen was presented as follows (taking into account possible difficulties in identifying the epithelial lining): true cyst – 182 (56.4%); dermoid cyst – 3 (0.9%) (malignant – in 1 case); pseudocyst – 16 (5.0%); pancreatogenic – 34 (10.5%); echinococcus – 52 (16.1%); lymphangioma – 24 (7.4%); lymphoma – 10 (3.1%); ovarian cancer metastasis – 2 (0.6%). The article describes the ultrasound signs of the above forms of the lesions with an emphasis on the complexity of diagnosis.Conclusions. Primary and parasitic spleen cysts are well differentiated according to ultrasound; false cysts of the spleen, depending on the cause of their occurrence, can create difficulties in their identification and differentiation (they require careful dynamic control); cystic tumors of the spleen should be differentiated from malignant tumors and metastases of a cystic structure, as a result of which such vigilance should always be present when they are detected.

A glance on dystonias, how to recognize and handle them

2019 ◽  
pp. 22-29
Author(s):  
F. N. Mercan ◽  
E. Bayram ◽  
M. C. Akbostanci
Keyword(s):  
Differential Diagnosis ◽  
Movement Disorder ◽  
Age Of Onset ◽  
Clinical Manifestations ◽  
Body Part ◽  
Classification Model ◽  
Treatment Choices ◽  
Muscle Groups

Dystonia refers to an involuntary, repetitive, sustained, painful and twisting movements of the affected body part. This movement disorder was first described in 1911 by Hermain Oppenheim, and many studies have been conducted to understand the mechanism, the diagnosis and the treatment of dystonia ever since. However, there are still many unexplained aspects of this phenomenon. Dystonia is diagnosed by clinical manifestations, and various classifications are recommended for the diagnosis and the treatment. Anatomic classification, which is based on the muscle groups involved, is the most helpful classification model to plan the course of the treatment. Dystonias can also be classified based on the age of onset and the cause. These dystonic syndromes can be present without an identified etiology or they can be clinical manifestations of a neurodegenerative or neurometabolic disease. In this review we summarized the differential diagnosis, definition, classifications, possible mechanisms and treatment choices of dystonia.

Dermal fibrosarcoma in a Cashmere goat

2019 ◽  
Vol 47 (03) ◽  
pp. 192-195
Author(s):  
Julia Schoiswohl ◽  
Bianca Lambacher ◽  
Andrea Klang ◽  
Reinhild Krametter-Frötscher
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Connective Tissue ◽  
Malignant Tumors ◽  
Histopathological Examination ◽  
Low Grade ◽  
Cashmere Goat ◽  
Short Lifespan ◽  
Production Processes

AbstractFibrosarcomas are malignant tumors of the connective tissue, which are characterized by proliferation of fibroblasts. Most of these tumors are localized subcutaneously and cause different symptoms depending on their location. The case report describes a dermal tumor on the outside of the pinna in a 7-year-old female Cashmere goat. The tumor was surgically removed and histopathological examination revealed a low grade fibrosarcoma. Although tumors are rare in ruminants because of the animals’ short lifespan (age of slaughtering in most cases < 24 months) in modern production processes, they should be considered as a differential diagnosis.

scholarly journals Lipschütz Ulcer: An Unusual Diagnosis that Should Not be Neglected

2021 ◽  
Vol 43 (05) ◽  
pp. 414-416
Author(s):  
Daniela Alexandra Gonçalves Pereira ◽  
Eliana Patrícia Pereira Teixeira ◽  
Ana Cláudia Martins Lopes ◽  
Ricardo José Pina Sarmento ◽  
Ana Paula Calado Lopes
Keyword(s):  
Emergency Department ◽  
Differential Diagnosis ◽  
Clinical Course ◽  
Malignant Tumors ◽  
Sudden Onset ◽  
Drug Reactions ◽  
Genital Ulceration ◽  
Sexually Transmitted ◽  
Inflammatory Processes ◽  
Genital Ulcers

AbstractThe diagnosis of genital ulcers remains a challenge in clinical practice. Lipschütz ulcer is a non-sexually transmitted rare and, probably, underdiagnosed condition, characterized by the sudden onset of vulvar edema along with painful necrotic ulcerations. Despite its unknown incidence, this seems to be an uncommon entity, with sparse cases reported in the literature. We report the case of an 11-year-old girl who presented at the emergency department with vulvar ulcers. She denied any sexual intercourse. The investigation excluded sexually transmitted infections, so, knowledge of different etiologies of non-venereal ulcers became essential. The differential diagnoses are extensive and include inflammatory processes, drug reactions, trauma, and malignant tumors. Lipschütz ulcer is a diagnosis of exclusion. With the presentation of this case report, the authors aim to describe the etiology, clinical course, and outcomes of this rare disease, to allow differential diagnosis of genital ulceration.

Cytokeratins in the Histological Diagnosis of Malignant Tumors

1994 ◽  
Vol 9 (2) ◽  
pp. 63-69 ◽  
Author(s):  
R. Moll
Keyword(s):  
Amino Acids ◽  
Differential Diagnosis ◽  
Intermediate Filaments ◽  
Multigene Family ◽  
Malignant Tumors ◽  
Relevant Information ◽  
Merkel Cells ◽  
Serological Detection ◽  
Degree Of Differentiation ◽  
Serological Tumor

Cytokeratins, which comprise a multigene family of 20 related polypeptides (CKs 1–20), are constituents of the intermediate filaments of epithelial cells, in which they are expressed in various combinations depending on the epithelial type and the degree of differentiation. Of these, CK 19 (400 amino acids; 44.1 kilodaltons) is an example of a widely distributed CK, being expressed in various epithelia, including many simple epithelia. In contrast, the recently identified CK 20 (424 amino acids; 48.6 kilodaltons) is essentially confined to gastrointestinal epithelia, the urothelium and Merkel cells. The differential expression of individual CKs in various types of carcinomas makes them useful markers for histopathological carcinoma subtyping, providing relevant information concerning the differentiation and origin of carcinomas, especially when tumors first present as metastases. The CKs that are of particular value for differential diagnosis include CK 20, as it is mainly expressed in carcinomas derived from CK 20-positive epithelia; it is also found in bile-tract, pancreatic and mucinous ovarian adenocarcinomas, being absent in most other carcinomas. In certain carcinoma types, the changes in the expression of individual CKs that may occur during tumor progression could be of prognostic relevance. It remains to be established whether the serological detection of fragments of not only widely distributed but also more restrictedly expressed CKs may provide useful serological tumor markers in the future.

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