scholarly journals Severe haemophilia a in a preterm girl with turner syndrome - a case report from the prenatal period to early infancy (part I)

2020 ◽  
Vol 46 (1) ◽  
Author(s):  
Agnieszka Berendt ◽  
Monika Wójtowicz-Marzec ◽  
Barbara Wysokińska ◽  
Anna Kwaśniewska
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Turner Syndrome ◽  
X Chromosome ◽  
Diagnostic Procedures ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Preterm Children ◽  
Initial Symptoms ◽  
The Central Nervous System

Abstract Background Bleedings are more frequent in the population of preterm children than among those born at term, much less in older children. The reasons for such bleedings in preterms include plasma factor deficiencies, immaturity of small vessels in the germinal matrix region, prenatal hypoxia or sepsis. They affect the brain tissue, the gastrointestinal tract and the respiratory system, or are manifested by prolonged bleedings from injection sites. Haemophilia is a rare cause of haemorrhages in the neonatal period, and in the female population it is even seen as an extremely rare disorder. Its aetiology in girls is diverse: inheriting defective genes from their parents, skewed X inactivation or a single X chromosome. Case presentation The article presents a case of a preterm girl born in the 28th week of pregnancy, who was diagnosed with severe haemophilia A stemming from the absence of the X chromosome. The girl’s father is healthy, but her mother’s brother suffers from haemophilia. On the second day of the child’s life, a prolonged bleeding from the injection site was observed. A coagulation profile revealed prolonged APTT which pointed to haemophilia A diagnosis. Moreover, a marked clinical dysmorphy, female sex and a negative family history on the father’s side led the treating team to extend the diagnostic procedures to encompass karyotype evaluation. The girl was diagnosed with Turner syndrome. No bleeding to the central nervous system was observed during her hospital stay. Conclusions Preterm children belong to the risk group of bleeding into the central nervous system or haemorrhages in the course of sepsis. Rare causes of such bleedings should also be borne in mind, including haemophilia. The initial symptoms of haemophilia in preterm children occur in the first days of their lives, which is connected with a number of invasive procedures required in that period. Genetic conditions may coexist with one another. Arriving at one diagnosis does not mean one should abandon further diagnostic procedures in cases where additional atypical symptoms are present which do not match the clinical image of a primary disease.

scholarly journals Severe haemophilia A in a preterm girl with Turner syndrome: case report – a diagnostic and therapeutic challenge for a paediatrician (Part 2)

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Berendt Agnieszka ◽  
Wójtowicz-Marzec Monika ◽  
Wysokińska Barbara ◽  
Kwaśniewska Anna
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Family History ◽  
Factor Viii ◽  
Turner Syndrome ◽  
Factor Viii Inhibitor ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Prolonged Bleeding ◽  
Increased Risk

Abstract Background Haemophilia A is an X-linked genetic condition which manifests itself mainly in male children in the first 2 years of life, during gross motor skill development. This disorder is rare in females. The clinical manifestation of severe haemophilia in preterm infants poses a great challenge to the therapeutic team. As extreme prematurity is linked to an increased risk of central nervous system or gastrointestinal bleeding, a well-informed and balanced treatment from the first days of life is crucial to prevent long-term damage. Haemophilia is most commonly caused by inheriting defective genes, and can also be linked to skewed X inactivation and Turner syndrome. The coincidental occurrence of haemophilia A and Turner syndrome is extremely rare, with only isolated cases described to date. Hence, a multidisciplinary approach is needed. Case presentation The authors report on a preterm girl (gestational age 28 weeks) diagnosed with haemophilia and Turner syndrome. The first manifestation of haemophilia was prolonged bleeding from injection sites on the second day of life. Indeterminate aPTT and factor VIII level < 1% confirmed the diagnosis of haemophilia A. Dysmorphic features which did not match the typical clinical picture of haemophilia, the female sex, and a negative paternal family history led to the diagnosis of Turner syndrome. While in hospital, the girl received multiple doses of recombinant factor VIII in response to prolonged bleedings from the injection sites and from a nodule on the girl’s head, and before and after retinal laser photocoagulation. No central nervous system or abdominal cavity bleeding was observed. The substitutive therapy was complicated by the development of factor VIII inhibitor (anti-factor VIII (FVIII) antibodies). Treatment was continued with recombinant factor VIIa. This article aims at demonstrating the complexity of the diagnostics and treatment of a preterm child with two genetic disorders. Conclusions Haemophilia should always be considered in the differential diagnosis of prolonged bleeding, even in patients with a negative family history. In the case of coinciding atypical phenotypic features, further diagnostics for another genetic disease are recommended. Infant care should follow current care standards, while considering certain individual features.

Superficial siderosis of the central nervous system after brachial plexus injury

1994 ◽  
Vol 80 (5) ◽  
pp. 931-934 ◽  
Author(s):  
Virginio Bonito ◽  
Cristina Agostinis ◽  
Stefano Ferraresi ◽  
Carlo Alberto Defanti
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Hearing Loss ◽  
Brachial Plexus ◽  
Brachial Plexus Injury ◽  
Superficial Siderosis ◽  
Content Type ◽  
Initial Symptoms ◽  
The Central Nervous System ◽  
Fine Print

✓ Superficial siderosis is a rare condition characterized by deposition of hemosiderin in the leptomeninges and in the subpial layers of the brain and spinal cord. It is associated with cerebrospinal fluid abnormalities consistent with recurrent bleeding into the subarachnoid space. The usual symptoms are hearing loss, ataxia, spastic paraparesis, sensory and sphincter deficits, and mental deterioration. A case is presented of severe superficial siderosis of the central nervous system in a 51-year-old man who had suffered a brachial plexus injury at the age of 20 years. The diagnosis was made by means of magnetic resonance imaging 16 years after the initial symptoms, which comprised bilateral hearing loss and anosmia. Subarachnoid bleeding was due to traumatic pseudomeningocele of the brachial plexus, a very unusual cause of superficial siderosis. This case is interesting insofar as the surgical treatment prevented further bleeding and possibly progression of the disease.

Diagnostic Difficulties in Primary Pauci-Melanotic Leptomeningeal Melanomatosis

2018 ◽  
Vol 80 (1-2) ◽  
pp. 68-70
Author(s):  
Ewa Koziorowska-Gawron ◽  
Maciej Kaczorowski ◽  
Joanna Bladowska ◽  
Sławomir Budrewicz ◽  
Magdalena Koszewicz ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Malignant Melanoma ◽  
Rare Case ◽  
Diagnostic Procedures ◽  
Postmortem Examination ◽  
Primary Malignant Melanoma ◽  
Diagnostic Difficulties ◽  
The Central Nervous System

We present a rare case of primary malignant melanoma of the central nervous system. We underline the difficulties we faced during diagnostic procedures. Finally, postmortem examination revealed the diagnosis of primary pauci-­melanotic leptomeningeal melanomatosis.

Low-grade central nervous system tumors

2002 ◽  
Vol 12 (2) ◽  
pp. 1-4 ◽  
Author(s):  
M. Beatriz S. Lopes ◽  
Edward R. Laws
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Brain Tumors ◽  
Diagnostic Procedures ◽  
Central Nervous System Tumors ◽  
Low Grade ◽  
Pathological Features ◽  
Nervous System Tumors ◽  
Pathological Classification ◽  
The Central Nervous System

Low-grade tumors of the central nervous system constitute 15 to 35% of primary brain tumors. Although this category of tumors encompasses a number of different well-characterized entities, low-grade tumors constitute every tumor not obviously malignant at initial diagnosis. In this brief review, the authors discuss the pathological classification, diagnostic procedures, treatment, and possible pathogenic mechanisms of these tumors. Emphasis is given in the neu-roradiological and pathological features of the several entities.

scholarly journals Central and Peripheral Neuromuscular Adaptations to Ageing

2020 ◽  
Vol 9 (3) ◽  
pp. 741 ◽  
Author(s):  
Riccardo Borzuola ◽  
Arrigo Giombini ◽  
Guglielmo Torre ◽  
Stefano Campi ◽  
Erika Albo ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Functional Decline ◽  
Leading Edge ◽  
Diagnostic Procedures ◽  
Voluntary Activation ◽  
Muscle Quality ◽  
Compensatory Mechanism ◽  
Age Related ◽  
The Central Nervous System

Ageing is accompanied by a severe muscle function decline presumably caused by structural and functional adaptations at the central and peripheral level. Although researchers have reported an extensive analysis of the alterations involving muscle intrinsic properties, only a limited number of studies have recognised the importance of the central nervous system, and its reorganisation, on neuromuscular decline. Neural changes, such as degeneration of the human cortex and function of spinal circuitry, as well as the remodelling of the neuromuscular junction and motor units, appear to play a fundamental role in muscle quality decay and culminate with considerable impairments in voluntary activation and motor performance. Modern diagnostic techniques have provided indisputable evidence of a structural and morphological rearrangement of the central nervous system during ageing. Nevertheless, there is no clear insight on how such structural reorganisation contributes to the age-related functional decline and whether it is a result of a neural malfunction or serves as a compensatory mechanism to preserve motor control and performance in the elderly population. Combining leading-edge techniques such as high-density surface electromyography (EMG) and improved diagnostic procedures such as functional magnetic resonance imaging (fMRI) or high-resolution electroencephalography (EEG) could be essential to address the unresolved controversies and achieve an extensive understanding of the relationship between neural adaptations and muscle decline.

scholarly journals Otological manifestations of turner syndrome: Clinical and radiological findings

2016 ◽  
Vol 69 (1-2) ◽  
pp. 45-47
Author(s):  
Dragoslava Djeric ◽  
Zoran Dudvarski ◽  
Ljiljana Cvorovic
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Case Report ◽  
Turner Syndrome ◽  
Treatment Options ◽  
Team Approach ◽  
Radiological Findings ◽  
X Chromosomes ◽  
Multidisciplinary Team Approach ◽  
The Central Nervous System

Introduction. Turner syndrome is a chromosomal abnormality where all or a part of one of the X chromosomes is absent or it has other abnormalities. Besides characteristic abnormalities of short stature and infertility, women with Turner syndrome have increased risks for tumors of the central nervous system, especially meningioma and an otologic disease. Meningioma involving the middle ear is extremely rare, and this condition has never been published in association with Turner syndrome. Case Report. We present an otologic manifestation associated with other abnormalities in a patient with Turner syndrome and discuss diagnosis and possible treatment options. Conclusion. Multidisciplinary team approach is essential in these patients in order to evaluate their vulnerability and define therapeutic priorities.

scholarly journals Focal brain lesions as a consequence of an obscure neurosurgical treatment in drug-addicted patient

2020 ◽  
Vol 148 (3-4) ◽  
pp. 223-226
Author(s):  
Ivana Stojic ◽  
Dalibor Ilic ◽  
Mirela Jukovic ◽  
Milos Vujanovic ◽  
Ivana Canak ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Male Patient ◽  
Diagnostic Procedures ◽  
Clinical Analysis ◽  
Brain Lesions ◽  
Brain Infection ◽  
Neurosurgical Treatment ◽  
The Central Nervous System ◽  
Ct And Mri

Introduction. Infectious or non-infectious noxae may occur in drug-addicted patients who have clinical presentation of meningeal syndrome with a spectrum of possible complications, such as a diffuse or focal brain lesions. The objective of this report is to present a rare case of a drug-addicted male patient, initially suspected of mycosis of the central nervous system, but computed tomography (CT) and magnetic resonance imaging (MRI) showed the signs of an invasive neurosurgical operation that the patient underwent during the treatment of drug addiction. Case outline. A 37-year-old male patient was hospitalized at the Clinic for Infectious Diseases, Clinical Center of Vojvodina, with a meningeal syndrome, initially suspected of mycosis of the central nervous system. He was diagnosed at the Center for Radiology. Neuroimaging ? CT and MRI were used in order to prove or disprove the presence of brain infection. These diagnostic procedures ruled out the presence of brain infection, but opened questions about the type of neurosurgical treatment performed out of legal institution, due to the presence of craniotomy and focal glial brain lesions in the frontal lobes. Conclusion. In drug-addicted patients, meningeal syndrome can be connected with diffuse or focal brain infections. Together with laboratory and clinical analysis, imaging methods contribute to the decision making and optimal treatment of patients. In our case, CT and MRI made a significant contribution in the detection of the focal brain lesions and clarification of their etiology.

Effects of Hyperoxia on Lung Utrastructure

1970 ◽  
Vol 28 ◽  
pp. 26-27
Author(s):  
Gladys Harrison
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Light Microscopy ◽  
Oxygen Effects ◽  
Age Dependent ◽  
The Central Nervous System ◽  
The Subject ◽  
Space Age ◽  
Alveolar Septa ◽  
Extensive Damage

With the advent of the space age and the need to determine the requirements for a space cabin atmosphere, oxygen effects came into increased importance, even though these effects have been the subject of continuous research for many years. In fact, Priestly initiated oxygen research when in 1775 he published his results of isolating oxygen and described the effects of breathing it on himself and two mice, the only creatures to have had the “privilege” of breathing this “pure air”.Early studies had demonstrated the central nervous system effects at pressures above one atmosphere. Light microscopy revealed extensive damage to the lungs at one atmosphere. These changes which included perivascular and peribronchial edema, focal hemorrhage, rupture of the alveolar septa, and widespread edema, resulted in death of the animal in less than one week. The severity of the symptoms differed between species and was age dependent, with young animals being more resistant.

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