Paradoxical reaction to increased doses of intrathecal baclofen in a patient with Leigh syndrome

2021 ◽  
Vol 14 (1) ◽  
pp. 121-125
Author(s):  
Fareea Khaliq ◽  
Christina Santia ◽  
Erika Erlandson
Keyword(s):  
Genetic Disease ◽  
Pediatric Population ◽  
Leigh Syndrome ◽  
Intrathecal Baclofen ◽  
Paradoxical Reaction ◽  
First Case ◽  
Paradoxical Worsening ◽  
Initial Improvement ◽  
Initial Placement ◽  
Incremental Increase

In clinical practice, intrathecal baclofen (ITB) therapy is used to control spasticity. After initial placement of the ITB pump, clinicians incrementally increase the dose until effectiveness in alleviating spasms and spasticity is optimized. However, this case describes a 4-year-old male with Leigh syndrome who developed a paradoxical worsening of spasticity and pain with incremental increase of his ITB pump. In this rare genetic disease with a poor prognosis, an ITB pump was trialed and implanted and titrated upwards with initial improvement. However, his spasticity and pain then began to worsen with each dosage increase. Subsequently, his symptoms improved significantly when the dose was weaned. This is the first case that describes this paradoxical reaction in a pediatric population and discusses recommendations about how clinicians should safely titrate the pump for patient care.

Fluorescent in situ hybridization (FISH): A useful diagnostic tool for childhood conjunctival melanoma

2021 ◽  
pp. 112067212110307
Author(s):  
Raquel María Moral ◽  
Carlos Monteagudo ◽  
Javier Muriel ◽  
Lucía Moreno ◽  
Ana María Peiró
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Pediatric Population ◽  
Diagnostic Technique ◽  
Histopathological Diagnosis ◽  
Fish Analysis ◽  
Conjunctival Melanoma ◽  
Adequate Treatment ◽  
First Case

Introduction: Conjunctival melanoma is extremely rare in children and has low rates of resolution. Definitive histopathological diagnosis based exclusively on microscopic findings is sometimes difficult. Thus, early diagnosis and adequate treatment are essential to improve clinical outcomes. Clinical case: We present the first case in which the fluorescent in situ hybridization (FISH) diagnostic technique was applied to a 10-year-old boy initially suspected of having amelanotic nevi in his right eye. Based on the 65% of tumor cells with 11q13 (CCND1) copy number gain and 33% with 6p25 (RREB1) gain as measured by the FISH analysis, and on supporting histopathological findings, the diagnosis of conjunctival melanoma could be made. Following a larger re-excision, adjuvant therapy with Mitomycin C (MMC), cryotherapy and an amniotic membrane graft, the patient has remained disease-free during 9 years of long-term follow-up. Case discussion: Every ophthalmologist should remember to consider and not forget the possibility of using FISH analyses during the differential diagnosis of any suspicious conjunctival lesions. Genetic techniques, such as FISH, have led to great advances in the classification of ambiguous lesions. Evidence-based guidelines for diagnosing conjunctival melanoma in the pediatric population are needed to determine the most appropriate strategy for this age group.

scholarly journals A Case of COVID-19-Related Thrombocytopenia and Leukopenia in an Adolescent with Mild Symptoms

Children ◽  
2021 ◽  
Vol 8 (6) ◽  
pp. 509
Author(s):  
Lydia Kossiva ◽  
Athanasios Thirios ◽  
Eleni Panagouli ◽  
Alexandros Panos ◽  
Stavroula Lampidi ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Viral Infection ◽  
Nasal Congestion ◽  
Pediatric Population ◽  
Clinical Manifestations ◽  
Bone Marrow Aspiration ◽  
White Blood Count ◽  
Chronic Obstructive ◽  
First Case ◽  
The Impact

Since the beginning of the COVID-19 pandemic, there have been numerous reports and reviews on the complications caused by the disease, analyzing the acute and chronic consequences. The main symptoms of SARS-CoV-2 are dry cough, fever, and fatigue. COVID-19 appears to affect all systems, including renal, cardiovascular, circulatory, and respiratory systems, causing chronic obstructive pulmonary disease. We report on a 14-year-old male adolescent, who presented with thrombocytopenia (platelet count 92 × 109 /L) and leukopenia (white blood count 4.2 × 103 /μL) that was observed two months ago. Ten days before the first blood test, a viral infection with nasal congestion and runny nose was reported, without other accompanying symptoms. Viral antibodies screening revealed positivity for all the three specific COVID-19 antibodies. Further haematological evaluation with bone marrow aspiration revealed non-specific dysplastic features of the red cell and megakaryocyte progenitors. Although haematological alterations due to COVID-19 infection are available from adult patients’ reports, the effect of COVID-19 infection in the pediatric population is underestimated and this is the first case with such haematological involvement. Noteworthy, in the current case, the impact of the COVID-19 infection was not related to the severity of the disease, as the symptoms were mild. In similar cases, bone marrow aspiration would not be performed as a part of routine work-up. Thus, it is important when evaluating pediatric patients with COVID-19 infection to search and report those alterations in order to better understand the impact and the spectrum of clinical manifestations of the specific viral infection in children and adolescents.

scholarly journals Pipeline-assisted coil embolization of a large middle cerebral artery pseudoaneurysm in a 9-month-old infant: experience from the youngest flow diversion case

2018 ◽  
Vol 22 (5) ◽  
pp. 532-540 ◽  
Author(s):  
Geoffrey P. Colby ◽  
Bowen Jiang ◽  
Matthew T. Bender ◽  
Narlin B. Beaty ◽  
Erick M. Westbroek ◽  
...  
Keyword(s):  
Middle Cerebral Artery ◽  
Cerebral Artery ◽  
Coil Embolization ◽  
Pediatric Population ◽  
Flow Diversion ◽  
Left Middle Cerebral Artery ◽  
Artery Pseudoaneurysm ◽  
First Case ◽  
Aneurysm Occlusion

Intracranial aneurysms in the pediatric population are rare entities. The authors recently treated a 9-month-old infant with a 19-mm recurrent, previously ruptured, and coil-embolized left middle cerebral artery (MCA) pseudoaneurysm, which was treated definitively with single-stage Pipeline-assisted coil embolization. The patient was 5 months old when she underwent resection of a left temporal Grade 1 desmoplastic infantile ganglioglioma at an outside institution, which was complicated by left MCA injury with a resultant 9-mm left M1 pseudoaneurysm. Within a month, the patient had two aneurysmal rupture events and underwent emergency craniectomy for decompression and evacuation of subdural hematoma. The pseudoaneurysm initially underwent coil embolization; however, follow-up MR angiography (MRA) revealed aneurysm recanalization with saccular enlargement to 19 mm. The patient underwent successful flow diversion–assisted coil embolization at 9 months of age. At 7 months after the procedure, follow-up MRA showed complete aneurysm occlusion without evidence of in-stent thrombosis or stenosis. Experience with flow diverters in the pediatric population is still in its early phases, with the youngest reported patient being 22 months old. In this paper the authors report the first case of such a technique in an infant, whom they believe to be the youngest patient to undergo cerebral flow diversion treatment.

scholarly journals First Description of Alveolar Rhabdomyosarcoma of the Larynx in a Young Child

2020 ◽  
pp. 014556132097377
Author(s):  
Julien Quéré ◽  
Jean-Christophe Leclere ◽  
Julien Prévot ◽  
Virginie Conan ◽  
Rémi Marianowski
Keyword(s):  
Lymph Node ◽  
Young Child ◽  
Poor Prognosis ◽  
Pediatric Population ◽  
English Literature ◽  
Endoscopic Biopsy ◽  
Alveolar Rhabdomyosarcoma ◽  
Histological Subtypes ◽  
First Case ◽  
Node Metastases

Rhabdomyosarcoma of the larynx has been very rarely described in pediatric population. There are 3 histological subtypes: embryonal, pleomorphic, and alveolar. With regard to the English literature, we present the first case of alveolar rhabdomyosarcoma of the larynx ever described in a child. This tumor has been diagnosed on an endoscopic biopsy. Thus, a unilateral arytenoidectomy has been performed. This tumor has a poor prognosis. Lymph node metastases were successfully treated by chemotherapy and radiotherapy. Surgery has shifted from radical to conservative combined with adjuvant treatments.

Association of pancreatic adenocarcinoma, mild lung disease, and delta F508 mutation in a cystic fibrosis patient

1994 ◽  
Vol 40 (10) ◽  
pp. 1972-1974 ◽  
Author(s):  
G J Tsongalis ◽  
G Faber ◽  
F G Dalldorf ◽  
K J Friedman ◽  
L M Silverman ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
General Population ◽  
Lung Disease ◽  
Genetic Disease ◽  
Obstructive Lung Disease ◽  
Malignant Disease ◽  
Molecular Data ◽  
Cystic Fibrosis Mutation ◽  
First Case ◽  
Adenocarcinoma Of The Pancreas

Abstract A case of adenocarcinoma of the pancreas and mild lung disease in a 39-year-old man homozygous for the delta F508 cystic fibrosis mutation is presented. Cystic fibrosis is the most common lethal genetic disease in Caucasians, and is most commonly associated with severe obstructive lung disease. To our knowledge, this is only the fifth case of adenocarcinoma of the pancreas in a CF patient to be reported and the first case for which molecular data are available. The rare incidence of this type of malignancy in the general population suggests a possible association of CF with this malignant disease.

scholarly journals Chiari I Malformation Associated with Turner Syndrome

2017 ◽  
Vol 08 (02) ◽  
pp. 277-280 ◽  
Author(s):  
Kamble Jayaprakash Harsha ◽  
Jeevan S. Nair
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Turner Syndrome ◽  
Genetic Disease ◽  
Clinical Presentation ◽  
Chiari I Malformation ◽  
Resonance Imaging ◽  
Cough Headache ◽  
First Case ◽  
Chiari I

ABSTRACTTurner syndrome (TS) is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough headache. Her magnetic resonance imaging revealed Chiari I malformation associated with TS. To the best of our knowledge, Chiari I malformation associated with TS is not described in literature. We report the first case of TS associated with Chiari I malformation. Interestingly, Chiari I malformation is also associated with Noonan’s syndrome, which is a close morphological mimicker of TS, raising the possibility of sharing similar pathogenesis in both conditions.

scholarly journals Diagnostic Difficulties in a Case of Fetal Ventricular Tachycardia Associated with Neonatal COVID Infection: Case Report

2021 ◽  
Vol 18 (23) ◽  
pp. 12796
Author(s):  
Liliana Gozar ◽  
Carmen Corina Șuteu ◽  
Dorottya Gabor-Miklosi ◽  
Andreea Cerghit-Paler ◽  
Amalia Făgărășan
Keyword(s):  
Ventricular Tachycardia ◽  
Myocardial Injury ◽  
Clinical Course ◽  
Myocardial Dysfunction ◽  
Pediatric Population ◽  
Left Ventricular ◽  
Rapid Progression ◽  
First Case ◽  
Diagnostic Difficulties ◽  
Fetal Tachyarrhythmia

The clinical course of COVID in the pediatric population is considered to be much milder when compared to adults; however, the occurrence of severe and fatal forms of the disease in children is non-negligible, especially in patients with comorbidities such as prematurity or cardiac disease. We report a case of a newborn with sotalol-controlled fetal ventricular tachycardia, who was postnatally diagnosed with COVID infection. The myocardial injury was sustained on the basis of pericardial effusion, left ventricular dysfunction, rapid progression to coronary artery dilation, and an arrhythmic storm. We believe that, in our case, there is a significant overlap between fetal ventricular tachycardia, associated with impaired left ventricular function, and COVID infection, diagnosed after birth; both factors contribute to the myocardial dysfunction with a fulminant clinical evolution. To our knowledge, this is the first case describing neonatal myocardial dysfunction associated with SARS-CoV infection complicating the clinical course of rare fetal tachyarrhythmia.

scholarly journals Case Report: Long-Term Tolvaptan Treatment in a Child With SIADH and Suprasellar Arachnoid Cyst

2021 ◽  
Vol 9 ◽  
Author(s):  
Andrea Puma ◽  
Milena Brugnara ◽  
Paolo Cavarzere ◽  
Marco Zaffanello ◽  
Giorgio Piacentini ◽  
...  
Keyword(s):  
Serum Sodium ◽  
Pediatric Population ◽  
Treatment Options ◽  
Case Series ◽  
Mass Effect ◽  
Female Child ◽  
Fluid Restriction ◽  
First Case ◽  
Asymptomatic Children ◽  
V2 Receptor

Suprasellar arachnoid cysts represent a rare occurrence in the pediatric population and usually cause symptoms related to mass effect and can occasionally cause endocrine dysfunctions. The association between SAC and the syndrome of inappropriate antidiuretic hormone (SIADH) in the pediatric population has rarely been described previously. In most cases, SIADH is temporary and resolves by treating the underlying cause. The first-line treatment consists of fluid restriction in asymptomatic children. Oral urea and demeclocycline are other effective treatment options. Vaptans are a new class of medication for the management of SIADH. These agents are a nonpeptide vasopressin V2 receptor antagonist that selectively antagonizes the antidiuretic effect of AVP, resulting in excretion of diluted urine or “aquaresis.” Their efficacy has been shown in adult patients with euvolemic or hypervolemic hyponatremia. However, evidence is lacking in pediatric patients with SIADH. We report the case of a 9-year-old female child with a SAC, who underwent endoscopic fenestration at the age of 2 years. After surgery she developed chronic hyponatremia due to SIADH. Hyponatremia was refractory to treatment with fluid restriction, oral sodium, and urea. In order to normalize serum sodium levels, tolvaptan treatment was started on a compassionate-use basis; 24–48 h later serum sodium levels returned to normal. To date, tolvaptan has been used regularly for 6 years with no side effects occurring during the treatment period. This is the first case of a child with chronic SIADH secondary to SAC successfully treated with tolvaptan. Further studies are needed to demonstrate its usefulness on a broader case series.

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