Ataxia telangiectasia: A diagnostic challenge. Case report

Introduction: Ataxia-telangiectasia (AT) is a neurodegenerative syndrome with low incidence and prevalence worldwide, which is caused by a mutation of the ATM gene. It is an autosomal recessive disorder that is associated with defective cell regeneration and DNA repair mechanisms. It is characterized by progressive cerebellar ataxia, abnormal eye movements, oculocutaneous telangiectasias and immunodeficiency. Early diagnosis is critical to initiate a timely interdisciplinary treatment, improve acute symptoms, and control the multiple comorbidities of the disease. The following is the case of a patient who presented with the aforementioned characteristics and had an adequate response to the established medical treatment.Case presentation: A 7-year-old female patient from Bogotá, who presented clinical signs of global neurodevelopmental delay, cerebelar ataxia, frequent respiratory infections and ocular telangiectasias. Symptoms were associated with elevation of alpha fetoprotein and immunodeficiency, which allowed for a diagnosis of AT and the initiation of a timely interdisciplinary treatment.Conclusion: AT is a chromosomal instability syndrome with characteristic signs and symptoms. It is essential to know the etiopathogenesis, clinical manifestations, diagnostic criteria, and therapeutic options, emphasizing that early detection and clinical suspicion could favor the proper management of the comorbidities and improve the progressive course of the disease.

Download Full-text

l-Glutaric Acidemia: Investigation of a Patient and His Family

PEDIATRICS ◽

10.1542/peds.63.1.88 ◽

1979 ◽

Vol 63 (1) ◽

pp. 88-93

Author(s):

Donald T. Whelan ◽

Robert Hill ◽

Eamonn D. Ryan ◽

Marilyn Spate

Keyword(s):

Glutaric Acid ◽

Family Members ◽

Clinical Signs ◽

Clinical Manifestations ◽

Autosomal Recessive Disorder ◽

Signs And Symptoms ◽

Gas Liquid Chromatography ◽

Normal Range ◽

Metabolic Investigation ◽

Clinical Signs And Symptoms

A 5-month-old infant had an unusual combination of clinical signs and symptoms. These consisted of irritability, dystonia, lack of head control, grimacing, opisthotonos, choreoathetoid movements, delayed development, and severe metabolic acidosis. Metabolic investigation by gas-liquid chromatography/mass spectrometry detected urinary organic acids. This confirmed the diagnosis of l-glutaric aciduria. The concentration of l-glutaric acid in the patient's plasma was 2.5 mg/dl (normal range, 0 to 0.1 mg/dl), and in the patient's urine was 4.6 mg/mg of creatinine (normal range, 0 to 0.05 mg/mg of creatinine),) but the concentration was not elevated in the plasma and urine of the infant's parents nor of two other family members. No glutaryl-CoA dehvdrogenase activity was found in leukocytes taken from the patient. Three of the four family members, including the parents, demonstrated 38%, 42%, and 42% activity, respectively, compared with the activity of normal controls. These findings are consistent with an autosomal recessive disorder involving the Metabolism of ghitaryl-CoA to crotonyl-CoA. Dietary restriction was instituted on two separate occasions. First, a low protein diet of 1.6 gm/kg of body weight per day was given, then a low lysine intake of 50 mg/kg/day. These dietary manipulations caused a decrease in the plasma and urine concentrations of L-glutaric acid and β-hydroxyglutaric acid. However, no effect on the clinical manifestations of the disease was noted.

Download Full-text

Observation of initial clinical manifestations and repercussions from the treatment of 314 human injuries caused by black sea urchins (Echinometra lucunter) on the southeastern Brazilian coast

Revista da Sociedade Brasileira de Medicina Tropical ◽

10.1590/s0037-86822012000300021 ◽

2012 ◽

Vol 45 (3) ◽

pp. 390-392 ◽

Cited By ~ 11

Author(s):

Vidal Haddad Junior

Keyword(s):

Foreign Body ◽

Black Sea ◽

Sea Urchins ◽

Clinical Signs ◽

Clinical Manifestations ◽

Signs And Symptoms ◽

Early Observation ◽

The Black Sea ◽

Brazilian Coast ◽

Marine Animals

INTRODUCTION: Injuries caused by sea urchins are the most common caused by marine animals in humans in Brazil, with the black sea urchin (Echinometra lucunter) causing the most injuries to bathers. METHODS: This study observed 314 human wounds with emphasis on the early observation of clinical signs and symptoms and their implications on the recommended treatment. RESULTS: All the injuries were caused by black sea urchins and were observed in bathers. The lesions and the pain were associated with penetration of the spines; there was no early inflammation or pain without pressure on the wounded places. Complications arising from this kind on injury, including infections and foreign body granulomas, are associated with the permanence of the spines in the wounds. CONCLUSIONS: The study confirmed that this kind of injury is the most common accident caused by aquatic animals in Brazil. The main therapeutical recommendation is early removal of the spines to prevent late complications, such as infections and the formation of foreign body granulomas.

Download Full-text

An Update of Gorlin-Goltz Syndrome

Primary Dental Journal ◽

10.1177/205016841800700306 ◽

2018 ◽

Vol 7 (3) ◽

pp. 38-41 ◽

Cited By ~ 1

Author(s):

Aliya Hasan ◽

Dapo Akintola ◽

Aliya Hasan ◽

Dapo Akintola

Keyword(s):

Clinical Signs ◽

Clinical Manifestations ◽

Signs And Symptoms ◽

Oral Manifestations ◽

Early Referral ◽

Goltz Syndrome ◽

Dental Practitioners ◽

Wide Range ◽

Risk Of Malignancy ◽

Clinical Signs And Symptoms

Gorlin-Goltz syndrome encompasses a variety of clinical signs and symptoms including important oral manifestations which general dental practitioners should be aware of. In light of the risk of malignancy it is important to be aware of this syndrome and recognise the need for early referral for multidisciplinary management. This paper aims to discuss Gorlin-Goltz syndrome, the pathophysiology of the condition and address the wide range of clinical manifestations. The author will pay particular attention to the oral manifestations of the condition and the management of such anomalies.

Download Full-text

Phosphodiesterase Inhibitors: Could They Be Beneficial for the Treatment of COVID-19?

International Journal of Molecular Sciences ◽

10.3390/ijms21155338 ◽

2020 ◽

Vol 21 (15) ◽

pp. 5338 ◽

Cited By ~ 4

Author(s):

Mauro Giorgi ◽

Silvia Cardarelli ◽

Federica Ragusa ◽

Michele Saliola ◽

Stefano Biagioni ◽

...

Keyword(s):

Clinical Signs ◽

Clinical Manifestations ◽

Phosphodiesterase Inhibitors ◽

Signs And Symptoms ◽

World Health ◽

Pde Inhibitors ◽

Clinical Signs And Symptoms ◽

Hydrolyzing Enzymes ◽

Health Organization ◽

Restrictive Measures

In March 2020, the World Health Organization declared the severe acute respiratory syndrome corona virus 2 (SARS-CoV2) infection to be a pandemic disease. SARS-CoV2 was first identified in China and, despite the restrictive measures adopted, the epidemic has spread globally, becoming a pandemic in a very short time. Though there is growing knowledge of the SARS-CoV2 infection and its clinical manifestations, an effective cure to limit its acute symptoms and its severe complications has not yet been found. Given the worldwide health and economic emergency issues accompanying this pandemic, there is an absolute urgency to identify effective treatments and reduce the post infection outcomes. In this context, phosphodiesterases (PDEs), evolutionarily conserved cyclic nucleotide (cAMP/cGMP) hydrolyzing enzymes, could emerge as new potential targets. Given their extended distribution and modulating role in nearly all organs and cellular environments, a large number of drugs (PDE inhibitors) have been developed to control the specific functions of each PDE family. These PDE inhibitors have already been used in the treatment of pathologies that show clinical signs and symptoms completely or partially overlapping with post-COVID-19 conditions (e.g., thrombosis, inflammation, fibrosis), while new PDE-selective or pan-selective inhibitors are currently under study. This review discusses the state of the art of the different pathologies currently treated with phosphodiesterase inhibitors, highlighting the numerous similarities with the disorders linked to SARS-CoV2 infection, to support the hypothesis that PDE inhibitors, alone or in combination with other drugs, could be beneficial for the treatment of COVID-19.

Download Full-text

Clinical characteristics of COVID-19 in children compared with adults in Shandong, China

10.21203/rs.3.rs-17119/v1 ◽

2020 ◽

Author(s):

Wenjun Du ◽

Jinhong Yu ◽

Hui Wang ◽

Xiaoguo Zhang ◽

Shouwei Zhang ◽

...

Keyword(s):

Clinical Laboratory ◽

Health Workers ◽

Clinical Symptoms ◽

Clinical Signs ◽

Clinical Manifestations ◽

Case Series ◽

Signs And Symptoms ◽

Asymptomatic Patients ◽

Positive Indicators ◽

Clinical Signs And Symptoms

Abstract Aims & Background: The COVID-19 outbreak spread in China and is a threat to the world. We reported on the epidemiological, clinical, laboratory, and radiological characteristics of children cases to help health workers better understand and provide timely diagnosis and treatment.Methods: Retrospectively, two research centers’ case series of 67 consecutive hospitalized cases including 14 children cases with COVID-19 between 23 Jan 2020 to 15 Feb 2020 from Jinan and Rizhao were enrolled in this study. Epidemiological, clinical, laboratory, and radiological characteristics of children and adults were analyzed and compared.Results: Most cases in children were mild(21.4%) and conventional cases(78.6%), with mild clinical signs and symptoms, and all cases were of family clusters. Fever (35.7%) and dry cough(21.4%) were described as clinical manifestations in children cases. Dry cough and phlegm were not the most common symptoms in children compared with adults(p=0.03). In the early stages of the disease, lymphocyte counts did not significantly decline but neutrophils counts did in children compared with adults(p=0.00).There was an elevated level of LDH(p=0.01) and a lower level of CRP(p=0.00)and IL-6(p=0.01) in children compared with adults. There were 8 (57.1%)asymptomatic cases and 6 (42.9%)symptomatic cases among the 14 children cases. The age of asymptomatic patients was younger than that of symptomatic patients(p=0.03). Even among asymptomatic patients, 5(62.5%)cases had pneumonia including 3 (60%) cases with bilateral pneumonia, which was not different compared with that of asymptomatic cases(p=0.58, p=0.74).Conclusions: The clinical symptoms of children are mild, and the positive indicators of laboratory tests are rare, which may easily cause clinical misdiagnoses.

Download Full-text

Clozapine-induced myocarditis: electronic health register analysis of incidence, timing, clinical markers and diagnostic accuracy

The British Journal of Psychiatry ◽

10.1192/bjp.2021.58 ◽

2021 ◽

pp. 1-8

Author(s):

Aviv Segev ◽

Ehtesham Iqbal ◽

Theresa A. McDonagh ◽

Cecilia Casetta ◽

Ebenezer Oloyede ◽

...

Keyword(s):

Adverse Effects ◽

Language Processing ◽

Clinical Signs ◽

Clinical Manifestations ◽

Area Under The Curve ◽

Signs And Symptoms ◽

Diagnostic Value ◽

Clinical Markers ◽

Reactive Protein ◽

Increased Risk

Background Clozapine is associated with increased risk of myocarditis. However, many common side-effects of clozapine overlap with the clinical manifestations of myocarditis. As a result, there is uncertainty about which signs, symptoms and investigations are important in distinguishing myocarditis from benign adverse effects of clozapine. Clarity on this issue is important, since missing a diagnosis of myocarditis or discontinuing clozapine unnecessarily may both have devastating consequences. Aims To examine the clinical characteristics of clozapine-induced myocarditis and to identify which signs and symptoms distinguish true myocarditis from other clozapine adverse effects. Method A retrospective analysis of the record database for 247 621 patients was performed. A natural language processing algorithm identified the instances of patients in which myocarditis was suspected. The anonymised case notes for the patients of each suspected instance were then manually examined, and those whose instances were ambiguous were referred for an independent assessment by up to three cardiologists. Patients with suspected instances were classified as having confirmed myocarditis, myocarditis ruled out or undetermined. Results Of 254 instances in 228 patients with suspected myocarditis, 11.4% (n = 29 instances) were confirmed as probable myocarditis. Troponin and C-reactive protein (CRP) had excellent diagnostic value (area under the curve 0.975 and 0.896, respectively), whereas tachycardia was of little diagnostic value. All confirmed instances occurred within 42 days of clozapine initiation. Conclusions Suspicion of myocarditis can lead to unnecessary discontinuation of clozapine. The ‘critical period’ for myocarditis emergence is the first 6 weeks, and clinical signs including tachycardia are of low specificity. Elevated CRP and troponin are the best markers for the need for further evaluation.

Download Full-text

Clinical manifestations of cow milk protein intolerance in infants

Srpski arhiv za celokupno lekarstvo ◽

10.2298/sarh0508348m ◽

2005 ◽

Vol 133 (7-8) ◽

pp. 348-352

Author(s):

Marija Mladenovic ◽

Nedeljko Radlovic ◽

Zoran Lekovic ◽

Dragana Ristic ◽

Dragana Zivanovic ◽

...

Keyword(s):

Milk Protein ◽

Wide Spectrum ◽

Clinical Signs ◽

Clinical Manifestations ◽

Signs And Symptoms ◽

Cow Milk ◽

Type I ◽

Digestive Disorders ◽

Clinical Signs And Symptoms ◽

Protein Intolerance

Introduction. The disorder of cow milk protein intolerance is characterized by a wide spectrum of clinical manifestations caused by hypersensitivity of type I, II, or IV, and occurs in 2-3% of children, mostly infants. Objective. The aim of this study was to present our experiences and observations of clinical signs and symptoms of cow milk protein intolerance in infants aged below 12 months. Method. The investigation was carried out on a sample of 55 infants, aged between 1.5-9 months (x=4.2l?1.25), who had cow milk protein intolerance. Diagnosis of illness was based on characteristic anamnestic, clinical, and laboratory parameters, as well as on an adequate patient's response to antigen elimination. Results. The clinical presentation of cow milk protein intolerance was dominated by cutaneous problems, found in 40/55 (72.73%) infants, followed by digestive disorders, found in 31 (56.36%), while respiratory tract disorders were observed least frequently (14.55%). None of the patients developed anaphylactic shock. Changes involving only one system were found in 35 (63.64%) patients; of these 20 (36.36%) were cutaneous and 15 (27.27%) digestive. Twenty (36.36%) infants displayed multisystemic changes; of these 12 were cutaneus with digestive, 4 were cutaneus with respiratory, while 4 infants had cutaneous, digestive, and respiratory disorders. Of the 55 infants with cow milk protein intolerance, 26 (47.27%) had urticaria, 22 (40.00%) perioral erythema, 21 (38.18%) diarrhoea (15 haemorrhagic, 6 non-haemorrhagic), 13 (23.64%) vomiting, 12 (21.82%) Quincke's oedema, 12 (21.82%) eczema, 5 (9.09%) obstructive bronchitis, while 3 (5.45%) infants had laryngitis. In 5 (9.09%) patients we found a significant body weight deficit and in 3 (5.45%), sideropenic anaemia, while longitudinal growth retardation was not registered in any of the patients. Conclusion. Our study showed that the disorder of cow milk protein intolerance predominantly involved cutaneous disorders as well as combinations of cutaneous and digestive disorders, while respiratory system disorders proved to be relatively rare.

Download Full-text

Acute binocular diplopia: peripheral or central?

Journal of Neurology ◽

10.1007/s00415-020-10088-y ◽

2020 ◽

Vol 267 (S1) ◽

pp. 136-142

Author(s):

Olympia Kremmyda ◽

Claudia Frenzel ◽

Katharina Hüfner ◽

Nicolina Goldschagg ◽

Christian Brem ◽

...

Keyword(s):

Emergency Department ◽

Motor Nerve ◽

Clinical Signs ◽

Signs And Symptoms ◽

Screen Test ◽

Ocular Motor ◽

Diagnostic Challenge ◽

Ocular Motor Disorders ◽

Visual Vertical ◽

Binocular Diplopia

Abstract Objectives Acute diplopia is a diagnostic challenge for clinicians, in particular in the emergency department. The most common cause of acute diplopia are ocular motor nerve palsies (OMP). In this prospective study, we focused on identifying the most crucial signs and symptoms for differentiating between peripheral and central OMP. Methods We prospectively evaluated 56 non-consecutive patients who presented at our emergency department with acute binocular diplopia (≤ 10 days). The patient history was taken using a standardized questionnaire and patients underwent a neurological, neuro-ophthalmological and neuro-otological examination, including measurement of the subjective visual vertical (SVV), Harms tangent screen test, and cranial MRI. Results Forty-six out of 56 patients were diagnosed with an ocular motor cranial nerve palsy (OMP), 21 of peripheral and 23 of central origin; in two patients, the etiology remained unknown. The following features were different in peripheral and central OMP: (1) the presence of vertigo/dizziness was more frequent in central (43.5%) than in peripheral (9.5%) OMP. (2) Central ocular motor signs, such as saccadic smooth pursuit, additional internuclear ophthalmoplegia, skew deviation, and saccade palsies, were also found more frequently in the central than in the peripheral group (86.7% vs. 33.3%). (3) Further, a pathological SVV deviation by monocular testing of the non-affected eye was also more common in central (77.3%) than in peripheral OMP (38.9%). The presence of all three factors has a positive predictive value of 100% (CI 50–100%) for the presence of a central lesion. Conclusions In acute diplopia due to central OMP, the most important accompanying symptom is vertigo/dizziness, and the most important clinical signs are central ocular motor disorders (which require examination of the non-paretic eye) and an SVV deviation in the non-paretic eye.

Download Full-text

Children’s Interstitial and Diffuse Lung Diseases (ChILD) in 2020

Children ◽

10.3390/children7120280 ◽

2020 ◽

Vol 7 (12) ◽

pp. 280

Author(s):

Valentina Agnese Ferraro ◽

Stefania Zanconato ◽

Andrea Zamunaro ◽

Silvia Carraro

Keyword(s):

Lung Diseases ◽

Developmental Disorders ◽

Respiratory Infections ◽

Clinical Manifestations ◽

Signs And Symptoms ◽

Surfactant Protein ◽

Exercise Intolerance ◽

Patient Treatment ◽

High Resolution Computed Tomography ◽

Cell Hyperplasia

The term children interstitial lung diseases (chILD) refers to a heterogeneous group of rare diseases that diffusely affect the lung. ChILD specific to children younger than 2 years of age include diffuse developmental disorders, growth abnormalities, specific conditions of undefined etiology (neuroendocrine cell hyperplasia of infancy and pulmonary interstitial glycogenosis) and surfactant protein disorders. Clinical manifestations are highly variable, ranging from the absence of relevant symptoms to a severe onset. Most commonly, chILD presents with nonspecific respiratory signs and symptoms, such as dyspnea, polypnea, dry cough, wheezing, recurrent respiratory infections and exercise intolerance. In the diagnostic approach to a child with suspected ILD, chest high resolution computed tomography and genetic tests play a central role. Then, if the diagnosis remains uncertain, laryngotracheal-bronchoscopy and lung biopsy are needed. Pharmacological treatment is mostly empiric and based on anti-inflammatory and immunomodulatory drugs including corticosteroids, hydroxychloroquine and azithromycin. Despite chILD overall rarity, pediatric pulmonologists must be familiar with these diseases in order to carry out a timely diagnosis and patient treatment.

Download Full-text

Clinical Characteristics of Pediatric Patients with Ocular Toxocariasis in China

Ophthalmologica ◽

10.1159/000443215 ◽

2016 ◽

Vol 235 (2) ◽

pp. 97-105 ◽

Cited By ~ 7

Author(s):

Yalu Liu ◽

Qi Zhang ◽

Jing Li ◽

Xunda Ji ◽

Yu Xu ◽

...

Keyword(s):

Rural Areas ◽

Clinical Characteristics ◽

Pediatric Patients ◽

Age Of Onset ◽

Age Groups ◽

Clinical Signs ◽

Clinical Manifestations ◽

Signs And Symptoms ◽

Enzyme Linked Immunosorbent Assay ◽

Ocular Toxocariasis

Objective: The aim of the study was to analyze the clinical characteristics of pediatric patients with ocular toxocariasis. Methods: Ocular toxocariasis was diagnosed and treated in 46 children from Shanghai and surrounding provinces. The diagnosis of ocular toxocariasis was confirmed immunologically by performing an enzyme-linked immunosorbent assay on serum and/or intraocular fluid. All pediatric patients and their guardians completed a questionnaire concerning their cases and living habits. Results: The mean age of onset was 6 ± 3 years. Most children (85%) resided in rural areas, and 91% of the children had contact with adult dogs or puppies. At the first visit, visual acuity (VA) was <20/200 in 36 cases, and we detected peripheral granuloma in 36 patients. In our study, the most common signs were vitritis, vitreous strands, and tractional retinal detachment. The Optomap 200Tx device detected granuloma with an 85% sensitivity, which is much higher than that of other techniques. We treated 40 cases (87%) with topical corticosteroids, while 28 patients (61%) were treated with systemic corticosteroids. Only 18 children (39%) required surgical intervention. All patients were examined and treated by the same ophthalmologists. Conclusions: Preschool children in China are more often affected by toxocariasis compared with other age groups. The most common signs included unilateral granuloma and ocular inflammation. In our study, clinical manifestations were severe and complicated. At the first visit, VA was <20/200 in most patients. Ocular toxocariasis was diagnosed on the basis of clinical signs and symptoms; the diagnosis was confirmed by immunological testing. Techniques using the Optomap 200Tx device can facilitate the early detection and lead to better visual prognosis.

Download Full-text