Acute low-pressure hydrocephalus: a case series and systematic review of 195 patients

OBJECTIVEAcute low-pressure hydrocephalus (ALPH) is characterized by clinical manifestations of an apparent raised intracranial pressure (ICP) and ventriculomegaly despite measured ICP that is below the expected range (i.e., typically ≤ 5 cm H2O). ALPH is often refractory to standard hydrocephalus intervention protocols and the ICP paradox commonly leads to delayed diagnosis. The aim of this study was to characterize ALPH and develop an algorithm to facilitate diagnosis and management for patients with ALPH.METHODSEMBASE, MEDLINE, and Google Scholar databases were searched for ALPH cases from its first description in 1994 until 2019. Cases that met inclusion criteria were pooled with cases managed at the authors’ institution. Patient characteristics, presenting signs/symptoms, precipitating factors, temporizing interventions, definitive treatment, and patient outcomes were recorded.RESULTSThere were 195 patients identified, with 42 local and 153 from the literature review (53 pediatric patients and 142 adults). Decreased level of consciousness was the predominant clinical sign. The most common etiologies of hydrocephalus were neoplasm and hemorrhage. While the majority of ALPH occurred spontaneously, 39% of pediatric patients had previously undergone a lumbar puncture. Prior to ALPH diagnosis, 92% of pediatric and 39% of adult patients had a ventricular shunt in situ. The most common temporizing intervention was subatmospheric CSF drainage. The majority of patients underwent a shunt insertion/revision or endoscopic third ventriculostomy as definitive ALPH treatment. Although the mortality rate was 11%, 83% of pediatric and 49% of adult patients returned to their pre-ALPH neurological functional status after definitive treatment. Outcomes were related to both the severity of the underlying neurosurgical disease causing the hydrocephalus and the efficacy of ALPH treatment.CONCLUSIONSALPH is an underrecognized variant phenotype of hydrocephalus that is associated with multiple etiologies and can be challenging to treat as it frequently does not initially respond to standard strategies of CSF shunting. With early recognition, ALPH can be effectively managed. A management algorithm is provided as a guide for this purpose.

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Macrophage Activation Syndrome in Adults: A Retrospective Case Series

Journal of Investigative Medicine High Impact Case Reports ◽

10.1177/23247096211026406 ◽

2021 ◽

Vol 9 ◽

pp. 232470962110264

Author(s):

Taylor Warmoth ◽

Malvika Ramesh ◽

Kenneth Iwuji ◽

John S. Pixley

Keyword(s):

Macrophage Activation Syndrome ◽

Macrophage Activation ◽

Pediatric Patients ◽

Inflammatory Diseases ◽

Systemic Juvenile Idiopathic Arthritis ◽

Case Series ◽

Adult Patients ◽

Retrospective Case ◽

Life Threatening ◽

Activation Syndrome

Macrophage activation syndrome (MAS) is a form of hemophagocytic lymphohistocytosis that occurs in patients with a variety of inflammatory rheumatologic conditions. Traditionally, it is noted in pediatric patients with systemic juvenile idiopathic arthritis and systemic lupus erythematous. It is a rapidly progressive and life-threatening syndrome of excess immune activation with an estimated mortality rate of 40% in children. It has become clear recently that MAS occurs in adult patients with underlying rheumatic inflammatory diseases. In this article, we describe 6 adult patients with likely underlying MAS. This case series will outline factors related to diagnosis, pathophysiology, and review present therapeutic strategies.

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766. Everything Old is New Again-A Case Series of New World Leishmaniasis in African Children in Portland, Maine

Open Forum Infectious Diseases ◽

10.1093/ofid/ofaa439.956 ◽

2020 ◽

Vol 7 (Supplement_1) ◽

pp. S428-S428

Author(s):

Jennifer Jubulis ◽

Amanda Goddard ◽

Elizabeth Seiverling ◽

Marc Kimball ◽

Carol A McCarthy

Keyword(s):

Latin America ◽

Cutaneous Leishmaniasis ◽

New World ◽

Pediatric Patients ◽

Data Extraction ◽

Clinical Manifestations ◽

Case Series ◽

Surgical Excision ◽

Skin Lesions ◽

Travel History

Abstract Background Leishmaniasis has many clinical manifestations and treatment regimens, dependent on species and host. Old world leishmaniasis is found primarily in Africa and Asia, and is associated with visceral disease, while new world disease, seen primarily in Latin America, is more commonly mucocutaneous. We present a case series of pediatric African patients with New World cutaneous leishmaniasis (NWCL). Methods Data extraction was performed via chart review, analyzing travel history, clinical presentation, diagnosis, and management in children with cutaneous leishmaniasis presenting to the pediatric infectious diseases clinic in Portland, ME. Biopsy specimens were sent to the federal CDC for identification by PCR and culture. Results Five cases of NWCL were diagnosed in pediatric patients in Maine from November 2018 through February 2020. Median age of patients was 10 years (range 1.5-15 years). Four cases (80%) occurred in children from Angola or Democratic Republic of Congo, arriving in Maine via Central/South America, with one case in a child from Rwanda who arrived in Maine via Texas. Three patients had multiple skin lesions and two had isolated facial lesions. Leishmaniasis was not initially suspected resulting in median time to diagnosis of 5 months (range 1-7 months). Four patients were initially treated with antibacterials for cellulitis and one was treated with griseofulvin. After no improvement, patients underwent biopsy with 2 patients diagnosed with L panamensis, 1 with L braziliensis, 1 with mixed infection (L panamensis and L mexicana), and 1 with Leishmania species only. One patient was managed with surgical excision, 3 with ketoconazole, and 1 was observed off therapy. Four patients were referred to otolaryngology. All continue to be followed in infectious disease clinic. Conclusion We present five cases of new world cutaneous leishmaniasis in African pediatric patients arriving to Maine through Latin America or Texas. Patients were diagnosed with cellulitis, tinea corporis or atopic dermatitis initially, underscoring importance of high index of suspicion in migrant patients. Detailed travel history and epidemiologic knowledge is essential to diagnosis, as patients may present with illness not congruent with country of origin. Optimal therapy remains unclear. Disclosures All Authors: No reported disclosures

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Intra-articular venous malformations of the knee: a diagnostic challenge

Pediatric Rheumatology ◽

10.1186/s12969-021-00640-z ◽

2021 ◽

Vol 19 (1) ◽

Author(s):

Federico Diomeda ◽

Maria Santaniello ◽

Giulia Bracciolini ◽

Angelo Ravelli ◽

Adele Civino

Keyword(s):

Early Recognition ◽

Young Patients ◽

Clinical Manifestations ◽

Case Series ◽

Venous Malformations ◽

Mri Imaging ◽

Diagnostic Challenge ◽

Complete Excision ◽

Hyperintense Signal ◽

Hypointense Signal

Abstract Background Intra-articular venous malformations (IAVM) are rare benign vascular anomalies that usually affect young patients and most common locate in the knee. The terminology of these lesions is still ill-defined, as they are often termed in the literature as synovial hemangiomas. Early diagnosis can be difficult, because they usually present with nonspecific clinical manifestations that are similar those of other rheumatic diseases, especially juvenile idiopathic arthritis (JIA). Case series We conducted a retrospective analysis of five pediatric patients admitted to our units for recurrent swelling of the knee, and compared their characteristics with those of literature reports. The average age at first symptom and time from onset to diagnosis was 3.9 years (range 18 months-7 years) and 3.5 years (range 1-7 years), respectively. In our patients, an initial misdiagnosis of JIA, bleeding disorder or traumatic arthropathy was made. On MRI imaging, the features of the lesion were similar in all patients, and were marked by isointense-to-hypointense signal in T1-weighted images, and hyperintense signal in T2-weighted images. When performed, arthrocentesis led to aspiration of bloody fluid. The diagnosis was confirmed with a biopsy and histopathologic assessment in all patients. Open surgery enabled complete excision of the mass and was followed by stable remission over time in all cases. Conclusions Our report highlights the challenges that may be posed by the detection of knee IAVM and the frequent long delay between onset of symptoms and diagnosis. The key elements for early recognition include careful assessment of patient history, demonstration of bloody fluid on arthrocentesis, and proper interpretation of MRI scanning.

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Meckel’s Diverticulum: Factors Associated with Clinical Manifestations

ISRN Gastroenterology ◽

10.1155/2014/390869 ◽

2014 ◽

Vol 2014 ◽

pp. 1-5 ◽

Cited By ~ 7

Author(s):

Jeng-Jung Chen ◽

Hung-Chang Lee ◽

Chun-Yan Yeung ◽

Wai-Tao Chan ◽

Chuen-Bin Jiang ◽

...

Keyword(s):

Clinical Features ◽

Pediatric Patients ◽

Meckel’S Diverticulum ◽

Age Groups ◽

Clinical Manifestations ◽

Meckel's Diverticulum ◽

Adult Patients ◽

Ectopic Gastric Mucosa ◽

Intestinal Hemorrhage ◽

Clinical Presentations

Objectives. The purpose of this study was to investigate the clinical features of Meckel’s diverticula at different ages, genders, and pathology in order to serve as a reminder to clinicians when evaluating potential cases and to help obtain an early diagnosis. Methods. We collected information of patients with Meckel’s diverticulum diagnosed at Mackay Memorial Hospital in Taiwan from 1984 to 2009. After performing a thorough review of their charts, the clinical features of the Meckel’s diverticula were analyzed according to age groups, gender, and pathology. Result. A total of 126 patients, with 90 males and 36 females, were enrolled in this study. Seventy-five patients were symptomatic and 51 Meckel’s diverticula were found incidentally during surgery for other diseases. Among symptomatic patients, 39% of pediatric patients and 5% of adult patients had intestinal hemorrhage. Twenty-eight percent of pediatric patients and 67% of adult patients had inflammation of Meckel’s diverticulum. Forty-six percent of males and 16% of females had inflammation. Conversely, 27% of males and 58% percent of females had intestinal obstruction. When Meckel’s diverticulum had ectopic gastric mucosa, it tended to cause intestinal hemorrhage when the patient is young. Conclusions. Age, gender, and pathology affect the clinical presentations of Meckel’s diverticula.

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STUDIES ON CONGENITAL HEMOLYTIC SYNDROMES

PEDIATRICS ◽

10.1542/peds.23.3.462 ◽

1959 ◽

Vol 23 (3) ◽

pp. 462-475

Author(s):

Marion E. Erlandson ◽

Irving Schulman ◽

Carl H. Smith

Keyword(s):

Sickle Cell ◽

Sickle Cell Anemia ◽

Pediatric Patients ◽

Clinical Manifestations ◽

Adult Patients ◽

Present Series ◽

Risk Of Infection ◽

Laboratory Examination ◽

Careful Observation ◽

Compensation Index

Four adult patients were studied in whom classic congenital spherocytic anemia was evident clinically and by laboratory examination. Anemia, as determined by total volume of erythrocytes, was marked although concentrations of hemoglobin were only slightly low. Rates of destruction and production of erythrocytes were markedly accelerated. Six pediatric patients with minimal clinical manifestations but definite laboratory evidence of congenital spherocytosis were evaluated. Anemia, in terms of total volume of erythrocytes, was present in all patients despite normal concentrations of hemoglobin in some patients. A potential for future severe clinical manifestations was shown to be present in five of six children by the demonstration of marked hemolytic defects equivalent to the hemolytic defects present in adult patients with classic congenital spherocytic anemia. In the present series of patients with congenital spherocytosis in whom concentrations of hemoglobin were normal or slightly low, values for the total volume of erythrocytes and the compensation index were similar to values in patients with intermediate (homozygous) thalassemia and in many patients with sickle cell anemia. Abnormally low values for total volume of erythrocytes and compensation index were present in four patients in whom the rate of destruction of erythrocytes was less than six times normal. Rates of production of erythrocytes were less than six times normal in the majority of patients studied. This is contrary to a previous concept of the capacity for erythropoietic compensation in such patients. These values imply that some factor(s) which has not as yet been identified regulates the rate of erythropoiesis in these patients. Studies of four family groups of patients with congenital spherocytosis demonstrated the absence of any specific familial pattern of manifestations of the disease. It has been suggested that management of children with minimal symptoms resulting from the presence of this disease consists of careful observation, splenectomy being deferred until late in childhood to avoid a maximal risk of infection after splenectomy. It has also been suggested that splenectomy be performed before the age of 10 years in order to avoid the complication of gallstones, and that splenectomy be performed at an even earlier age if persistent severe symptoms are present. The existence of a truly mild hemolytic defect was demonstrated in only 1 of the 10 patients studied. It would seem that splenectomy is not indicated in this unusual patient.

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Infant Botulism in the Very Young Neonate: A Case Series

American Journal of Perinatology Reports ◽

10.1055/s-0037-1604407 ◽

2017 ◽

Vol 07 (03) ◽

pp. e163-e166 ◽

Cited By ~ 3

Author(s):

Laura Jackson ◽

Suneeta Madan-Khetarpal ◽

Monica Naik ◽

Marian Michaels ◽

Melissa Riley

Keyword(s):

Neonatal Intensive Care ◽

Early Recognition ◽

Delayed Diagnosis ◽

Case Series ◽

The United States ◽

Diagnostic Dilemma ◽

Infant Botulism ◽

Critically Ill Neonates ◽

Prolonged Hospital ◽

Work Up

Background Though botulism is a rare disease overall, all infants younger than 1 year of age are at risk of contracting infant botulism, the most prevalent form reported in the United States. Nonetheless, infant botulism is frequently omitted from the differential diagnosis of the very young neonate exclusively due to age, and the diagnosis is often only considered secondarily after a costly and prolonged work up is undertaken. Delayed diagnosis can lead not only to unnecessary testing but also to prolonged hospital stay and increased morbidity. Case This case series highlights three critically ill neonates, all younger than 30 days, who presented to our neonatal intensive care unit and were eventually diagnosed with infant botulism. The initial diagnostic dilemma is described for each of these patients and highlights the importance of early recognition of the main symptoms, in addition to consideration of important potential coinciding conditions.

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Assessment of the difference in posterior circulation involvement between pediatric and adult patients with moyamoya disease

Journal of Neurosurgery ◽

10.3171/2013.6.jns122099 ◽

2013 ◽

Vol 119 (4) ◽

pp. 961-965 ◽

Cited By ~ 35

Author(s):

Tomohito Hishikawa ◽

Koji Tokunaga ◽

Kenji Sugiu ◽

Isao Date

Keyword(s):

Moyamoya Disease ◽

Pediatric Patients ◽

Clinical Manifestations ◽

Staging System ◽

Posterior Circulation ◽

Adult Patients ◽

Mri Findings ◽

Significant Difference ◽

Advanced Stages ◽

The Difference

Object There is no description of the change in the posterior cerebral artery (PCA) in the diagnostic criteria of moyamoya disease (MMD). However, PCAs are often involved in the clinical setting, and an understanding of the significance of PCA lesions is therefore of great importance when evaluating the disease progression and predicting prognosis. The aim of this study was to assess the difference in posterior circulation involvement in pediatric and adult patients with MMD. Methods The records of 120 consecutive patients with MMD were reviewed. The clinical manifestations at diagnosis were evaluated on the basis of symptoms and CT and MRI findings. The degree of steno-occlusive internal carotid artery (ICA) lesions and the existence of steno-occlusive PCA lesions were evaluated by observing a total of 240 ICAs and PCAs on angiography. Angiographic correlation between anterior and posterior circulation was assessed in pediatric and adult patients with MMD. Results Seventeen (26%) of 66 pediatric patients and 18 (33%) of 54 adult patients exhibited steno-occlusive PCA lesions. There was no significant difference in the prevalence of PCA lesions between pediatric and adult patients with MMD (p = 0.36). The prevalence of infarction in pediatric and adult patients with PCA involvement was significantly higher than that in pediatric and adult patients without PCA involvement (p = 0.0003 and p = 0.003, respectively). There was no significant difference in the distribution of infarction areas between pediatric and adult patients with PCA involvement (p = 0.62). On the basis of the staging system used, steno-occlusive lesions in ICAs ipsilateral to PCAs with lesions were in significantly advanced stages compared with lesions in ICAs ipsilateral to PCAs without lesions in both pediatric and adult cases (p < 0.0001 and p = 0.0008, respectively). Pediatric patients had less advanced steno-occlusive lesions in ICAs ipsilateral to PCAs with lesions compared with adults (p < 0.05). Conclusions The clinical significance of posterior circulation involvement in MMD was similar between pediatric and adult patients. The only significant difference was that less advanced ICA lesions could complicate posterior circulation involvement in pediatric patients.

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Allergy to Gibberellin-Regulated Proteins (Peamaclein) in Children

International Archives of Allergy and Immunology ◽

10.1159/000517413 ◽

2021 ◽

pp. 1-6

Author(s):

Benedetta Biagioni ◽

Leonardo Tomei ◽

Claudia Valleriani ◽

Giulia Liccioli ◽

Simona Barni ◽

...

Keyword(s):

Pediatric Patients ◽

Immunoglobulin E ◽

Clinical Manifestations ◽

Case Series ◽

In Vitro Test ◽

Eligibility Criteria ◽

Positive Skin ◽

Vitro Test ◽

Pru P 3

Background: Gibberellin-regulated proteins (GRPs, Peamaclein) are allergens recently identified in plant-derived food allergy (FA), and little is known about the clinical manifestations of this allergic condition in the European population, especially in children. Objective: Our study aimed to identify and characterize pediatric patients with pollen-FA due to GRP sensitization. Methods: We retrospectively analyzed the charts of patients referred to the Allergy Unit of the Meyer Children’s Hospital in Florence for suspected FA. Three main eligibility criteria based on the actual knowledge of GRP allergy were used to select patients deserving further investigations: (1) systemic reactions after consumption of fruit or an unknown culprit food, (2) positive skin prick tests to both cypress pollen and Pru p 3-enriched peach peel extracts, (3) negative in vitro test results for Pru p 3 serum-specific Immunoglobulin E (sIgE). We performed the in vitro test to determine the anti-rPru p 7 (Peamaclein) sIgE levels in the selected patients. Results: We identified 10 pediatric patients with Pru p 7 allergy and described their characteristics. The use of our eligibility criteria showed a high accuracy in identifying these patients: 100% of the selected patients had positive in vitro results for Pru p 7. We therefore proposed a diagnostic algorithm for Pru p 7 allergy. Conclusion: This is the first case series of European pediatric patients with a demonstrated Peamaclein allergy. These findings broaden our knowledge on GRP allergy in pediatric populations and could help clinicians to suspect, diagnose, and manage this recently discovered plant-derived FA.

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Identification and Repair of Left-Sided Paraduodenal Hernia Using Both Laparoscopic and Robotic Techniques

Case Reports in Surgery ◽

10.1155/2020/7569530 ◽

2020 ◽

Vol 2020 ◽

pp. 1-6

Author(s):

Muhonen John ◽

Hsu Michael ◽

Sturdivant Matthew ◽

Unger Anthony ◽

Dexter David ◽

...

Keyword(s):

Delayed Diagnosis ◽

Case Series ◽

Definitive Treatment ◽

Paraduodenal Hernia ◽

Transverse Mesocolon ◽

Internal Hernias ◽

Before And After ◽

Operative Fixation ◽

Relative Rarity ◽

Repair Techniques

Internal hernias are an uncommon cause of small bowel obstruction and present a challenging clinical diagnostic scenario. They result from the abnormal protrusion of an abdominal organ through a peritoneal defect and can cause intermittent obstructive symptoms, diffuse abdominal discomfort, and postprandial pain. Paraduodenal hernias comprise 53% of all internal hernias 1 and occur due to failure of the fixation of either the left or transverse mesocolon to the posterior abdominal wall. Its relative rarity results in mortality between 20 and 50% 2 because of delayed diagnosis and consequent obstruction, strangulation, and bowel ischemia. Our case series describes three patients before and after operative fixation of paraduodenal hernia. Only one of the three was identified by preoperative radiologist interpretation. Subsequent diagnosis and definitive treatment were completed by surgical staff to resolve undiagnosed undulating abdominal pain and obstructive-type symptoms. We further analyze left-sided paraduodenal hernias after laparoscopic and robotic repair to define common symptomatology, typical CT findings, and preferred laparoscopic repair techniques.

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Supracerebellar infratentorial endoscopically controlled resection of pineal lesions: case series and operative technique

Journal of Neurosurgery Pediatrics ◽

10.3171/2011.8.peds1157 ◽

2011 ◽

Vol 8 (6) ◽

pp. 554-564 ◽

Cited By ~ 22

Author(s):

Timothy Uschold ◽

Adib A. Abla ◽

David Fusco ◽

Ruth E. Bristol ◽

Peter Nakaji

Keyword(s):

Single Case ◽

Clinical Manifestations ◽

Case Series ◽

Pineal Region ◽

Third Ventriculostomy ◽

Low Grade ◽

Who Grade ◽

Estimated Blood Loss ◽

The Mean

Object The heterogeneous clinical manifestations and operative characteristics of pathological entities in the pineal region represent a significant challenge in terms of patient selection and surgical approach. Traditional surgical options have included endoscopic transventricular resection; open supratentorial microsurgical approaches through the midline, choroidal fissure, lateral ventricle, and tentorium; and supracerebellar infratentorial (SCIT) approaches through the posterior fossa. The object of the current study was to review the preoperative characteristics and outcomes for a cohort of patients treated purely via the novel endoscopically controlled SCIT approach. Methods A single-institution series of 9 consecutive patients (4 male and 5 female patients [10 total cases]; mean age 21 years, range 6–37 years) treated via the endoscopically controlled SCIT approach for a pathological entity in the pineal region was retrospectively reviewed. The mean follow-up time was 13.2 months. Results The endoscopically controlled SCIT approach was successfully used to approach a variety of pineal lesions, including pineal cysts (6 patients), epidermoid tumor, WHO Grade II astrocytoma (initial biopsy and recurrence), and malignant mixed germ cell tumor (1 patient each). Gross-total resection and/or adequate cyst fenestration was achieved in 8 cases. Biopsy with conservative debulking was performed for the single case of low-grade astrocytoma and again at the time of recurrence. The mean preoperative tumor and cyst volumes were 9.9 ± 4.4 and 3.7 ± 3.2 cm3, respectively. The mean operating times were 212 ± 71 minutes for tumor cases and 177 ± 72 minutes for cysts. Estimated blood loss was less than 150 ml for all cases. A single case (pineal cyst) was converted to an open microsurgical approach to enhance visualization. There were no operative complications, as well as no documented CSF leaks, additional CSF diversion procedures, or air emboli. Seven patients underwent concomitant third ventriculostomy into the quadrigeminal cistern. At the time of the last follow-up evaluation, all patients had a stable or improved modified Rankin Scale score. Conclusions The endoscopically controlled SCIT approach may be used for the biopsy and resection of appropriately selected solid tumors of the pineal region, in addition to the fenestration and/or resection of pineal cysts. Preoperative considerations include patient presentation, anticipated disease and vascularity, degree of local venous anatomical distortion, and selection of optimal paramedian trajectory.

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