scholarly journals Pompe Disease: Cyanosed Hypotonic Infant with Normal Respiratory Rate

2017 ◽  
Vol 13 (2) ◽  
pp. 172-174 ◽  
Author(s):  
S. Koirala ◽  
A. Poudel ◽  
R. Basnet ◽  
K. Subedi
Keyword(s):  
Respiratory Rate ◽  
Pompe Disease ◽  
Clinical Findings ◽  
Diagnostic Challenge ◽  
Floppy Infant ◽  
History Of ◽  
Infantile Pompe Disease ◽  
High Index Of Suspicion ◽  
To Receive ◽  
Remote Part

Infantile hypotonia or floppy infant is a diagnostic challenge when it presents with other presenting complaints such as fever, cough or diarrhea. Many times the hypotonia goes unnoticed when other symptom covers the hypotonia and child continues to receive the treatment for other symptoms. We report a rare case from Nepal of infantile Pompe disease who presented with the history of fever and cough in the recent earthquake disaster camp at remote part of Sindhupalchowk, Nepal. He was being treated as a case of pneumonia.Pompe disease can be diagnosed clinically by taking detailed history and correlating the clinical findings during the presentation with other symptoms. In our case the normal respiratory rate, reduced Spo2 and presence of crackles dominated the hypotonia and was mistreated as pneumonia. High index of suspicion is necessary in diagnosing Pompe disease.

scholarly journals Diffuse infiltrating retinoblastoma: A diagnostic conundrum

2021 ◽  
Vol 7 (2) ◽  
pp. 204-206
Author(s):  
Harsha Bhattacharjee ◽  
Aditi Mehta ◽  
Dipankar Das ◽  
Kasturi Bhattacharjee ◽  
Manabjyoti Barman ◽  
...  
Keyword(s):  
Family History ◽  
Multimodal Imaging ◽  
Positive Family History ◽  
Neovascular Glaucoma ◽  
Exudative Retinal Detachment ◽  
Imaging Features ◽  
Diagnostic Challenge ◽  
Progressive Loss ◽  
History Of ◽  
High Index Of Suspicion

Diffuse infiltrating retinoblastoma (DIR) is characterized by absence of intraocular mass, lack of calcification. It may mimic inflammatory uveitis or exudative retinopathy. An eight-years-old boy presented with progressive loss of vision in left eye. Clinical evaluation revealed neovascular glaucoma with a yellow–gray fundal glow, exudative retinal detachment, subretinal exudation and telangiectatic vessels. The presentation was consistent with exudative retinopathy (Coat’s disease) but for the presence of a family history of retinoblastoma in the younger sibling. Despite the absence of an intraocular mass or calcification on multimodal imaging, the enucleation was done on the basis of clinical suspicion of retinoblastoma. Histopathology confirmed a diagnosis of DIR.: DIR can pose a diagnostic challenge due to its non-characteristic clinical and imaging features and atypical presentation. A high index of suspicion along with a positive family history was key to diagnosis in our case; histopathology was confirmatory.

scholarly journals Retained Surgical Items in Inguinal Canal: A Case Report and Literature Review

2018 ◽  
Vol 6 (11) ◽  
pp. 2165-2167
Author(s):  
Amer Hashim Al Ani ◽  
Mohammad Bakri Hammami ◽  
Obaidah M. Mukhles Adi
Keyword(s):  
Case Report ◽  
Inguinal Hernia ◽  
Literature Review ◽  
Hernia Repair ◽  
Preventive Measures ◽  
Inguinal Canal ◽  
Elective Surgery ◽  
Clinical Findings ◽  
History Of ◽  
High Index Of Suspicion

BACKGROUND: Retained surgical items (RSI) are rare medical challenges with serious complications and medicolegal implications. Knowledge and preventive measures for these rare events are currently not sufficient to limit their increasing incidence. Gauzes and sponges constitute most of RSI. Forceps, needles and pins may be found too. Diagnosis of these events is challenging and often missed due to nonspecific clinical findings. PRESENTATION OF CASE: We present here a 49-year-old patient who presented to the clinic with a history of chronic scrotal sinus on the same side of a repeatedly repaired inguinal hernia 4 months before admission. He underwent exploration of the inguinal canal as elective surgery. Exploration of the inguinal canal revealed missed surgical gauze left during the previous hernia repair. The gauze was removed, and the inguinal canal was repaired. The postoperative period was uncomplicated. CONCLUSION: Retained surgical items are completely preventable near-events. Although they are rare entities, clinicians must have a high index of suspicion for any postoperative, in patients presenting with pain, sinus or palpable masses.

scholarly journals A Race Against Time—Changing the Natural History of CRIM Negative Infantile Pompe Disease

2020 ◽  
Vol 11 ◽  
Author(s):  
Punita Gupta ◽  
Brian J. Shayota ◽  
Ankit K. Desai ◽  
Fuad Kiblawi ◽  
Dorothy Myridakis ◽  
...  
Keyword(s):  
Natural History ◽  
Pompe Disease ◽  
History Of ◽  
Infantile Pompe Disease

scholarly journals Case of Metastatic Malignant Melanoma Simulating Granuloma Annulare

2021 ◽  
Vol 5 (3) ◽  
pp. 289-292
Author(s):  
Haley Danielle Heibel ◽  
Parneet Dhaliwal ◽  
Etan Marks ◽  
Clay J. Cockerell
Keyword(s):  
Malignant Melanoma ◽  
Metastatic Melanoma ◽  
Immunohistochemical Staining ◽  
Previous History ◽  
Metastatic Malignant Melanoma ◽  
Granuloma Annulare ◽  
Diagnostic Challenge ◽  
Clinical Presentations ◽  
History Of ◽  
High Index Of Suspicion

Malignant melanoma and particularly metastatic melanoma represent a diagnostic challenge due to the wide variety of histologic patterns, resemblance to benign entities, and extensive range of clinical presentations.  A high index of suspicion for melanoma is important for accurate diagnosis, especially when there is a previous history of malignancy.  Here, we present a patient with a history of melanoma and locally metastatic melanoma, who subsequently developed a nodule on his right forearm near the site of his previous melanoma excision.  Histologically, the melanoma appeared as granuloma annulare (GA) with benign cytologic features, but was identified as metastatic melanoma using SOX-10 immunohistochemical staining.  Other malignancies, including lymphomas, leukemias, sarcomas, and cutaneous metastases of internal malignancies, have mimicked GA and interstitial granulomatous processes.  Therefore, further immunohistochemical staining should be performed to assess for metastatic disease in the setting of a histological pattern that resembles a benign granulomatous process in a patient with a history of malignancy, including malignant melanoma.

The emerging natural history of cross-reactive immunologic material (CRIM)-negative infantile Pompe disease patients treated with recombinant human GAA

2014 ◽  
Vol 111 (2) ◽  
pp. S97
Author(s):  
Kathryn B. Sheets ◽  
Priya S. Kishnani ◽  
Zoheb Kazi ◽  
Stephanie M. DeArmey ◽  
Deeksha S. Bali ◽  
...  
Keyword(s):  
Natural History ◽  
Pompe Disease ◽  
History Of ◽  
Infantile Pompe Disease

scholarly journals Fever of Unknown Origin - A Child With an Unusual Case of Juvenile Idiopathic Arthritis

2020 ◽  
Vol 4 (1) ◽  
pp. 459-461
Author(s):  
Purnima Gyawali ◽  
Deepika Gyawali ◽  
Sharda Acharya
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Fever Of Unknown Origin ◽  
Pediatric Population ◽  
Unknown Origin ◽  
Diagnostic Challenge ◽  
Laboratory Assessment ◽  
Medical College ◽  
Unexplained Fever ◽  
History Of ◽  
High Index Of Suspicion

Fever of unknown origin in the pediatric population is fever >38.3°C (101°F) of at least seven days' duration, in which no diagnosis is apparent after initial outpatient or hospital evaluation that includes a careful history and physical examination and initial laboratory assessment. Fever of unknown origin is a diagnostic challenge, with a broad spectrum of causes classified as infectious, malignant/neoplastic, rheumatic/inflammatory, and miscellaneous disorders. A high index of suspicion should be kept for juvenile idiopathic arthritis in children presenting with unexplained fever and joint symptoms and should be appropriately managed. The case described here is of a 13-year-old female from Nepal, who presented to the Pediatric outpatient department of KIST Medical College and Teaching Hospital with a history of fever and arthralgia for three months.

scholarly journals Silent primary ovarian ectopic pregnancy following ovulation induction: diagnostic dilemma

2021 ◽  
Vol 10 (9) ◽  
pp. 3654
Author(s):  
Kalyani Saidhandapani ◽  
Yashaswi Pandey ◽  
Priya Shaunthini
Keyword(s):  
Ovulation Induction ◽  
Diagnostic Challenge ◽  
Diagnostic Dilemma ◽  
Ovarian Pregnancy ◽  
Threatening Condition ◽  
Reproductive Techniques ◽  
Life Threatening ◽  
History Of ◽  
High Index Of Suspicion ◽  
Urine Pregnancy Test

Early diagnosis of an ovarian pregnancy, of all the diagnoses relating to extrauterine gestations, is perhaps a diagnostic challenge faced by an obstetrician and a radiologist. About 0.5% of extrauterine implantations occur in the ovary. Recent studies have demonstrated infertility and Assisted reproductive techniques (ARTs), multiparity, use of intrauterine devices as risk factors for ovarian ectopic. Knowledge pertaining to ovulation induction and risk of ovarian ectopic is even more scant. In this article, we report a case report of ovarian pregnancy following ovulation induction with letrozole. Patient visited with history of missed menstrual period, mild abdominal pain and a weakly positive urine pregnancy test. Provisional diagnosis of right tubal ectopic was made. Diagnosis of ruptured ovarian ectopic was made on explorative laparoscopy which was later confirmed histopathologically. Patient had normal intra and post-operative course. An ovarian ectopic can present as a life-threatening condition and a high index of suspicion can prevent morbidity as well as mortality. Ovarian pregnancy in a primigravida with ovulation induction without an alarming sign, as in this case, is the rarest entity came across till date.

scholarly journals A case report of visceral leishmaniasis and malaria co-infection with pancytopenia and splenomegaly - a diagnostic challenge

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Pragya Gautam Ghimire ◽  
Prasanna Ghimire ◽  
Jyoti Adhikari ◽  
Anurag Chapagain
Keyword(s):  
Case Report ◽  
Visceral Leishmaniasis ◽  
World Population ◽  
Risk Of Infection ◽  
Diagnostic Challenge ◽  
Endemic Region ◽  
Case Presentation ◽  
The World ◽  
History Of ◽  
High Index Of Suspicion

Abstract Background Leishmaniasis and malaria are tropical diseases with more than half of the world population at risk of infection resulting in significant morbidity and mortality. Co-infection of Leishmaniasis and malaria pose a great challenge in the diagnosis as well as overall management. Case presentation In this case report, we present a rare case of a 5 years old child hailing from non-endemic region of Nepal with history of fever for a period of 3 months who was diagnosed as co-infection of malaria due to Plasmodium vivax and visceral Leishmaniasis with pancytopenia that subsequently improved after a course of treatment. Conclusions A high index of suspicion for a possibility of co-infection with Leishmaniasis and malaria should be borne in mind when an individual hailing from or having history of travel to endemic countries presents with prolonged fever.

BICIPITAL TUBEROSITY OSTEOCHONDROMA CAUSING PAINFUL CLICKING AROUND THE WRIST: CASE REPORT AND LITERATURE REVIEW

Hand Surgery ◽  
2012 ◽  
Vol 17 (02) ◽  
pp. 229-232 ◽  
Author(s):  
Abdulrahman Alsawadi ◽  
Mustafa Abbas ◽  
Jeremy Stanton
Keyword(s):  
Diagnostic Challenge ◽  
Presenting Symptoms ◽  
Image Intensification ◽  
Mri Scans ◽  
History Of ◽  
Benign Tumours ◽  
High Index Of Suspicion ◽  
Radial Tuberosity ◽  
Radiological Studies ◽  
Bicipital Tuberosity

Osteochondromatas of bicipital tuberosity are rare, most commonly occurring as metaphyseal benign tumours of the long bones. The usual presenting symptoms are pain and reduced rotation of the elbow. A painful clunk in the wrist as a presenting symptom has not been described before. We present a young lady with a two-year history of a painful clunk in her wrist. Her case presented a diagnostic challenge, as the pain and the click originated from her elbow and radiated down her forearm to the wrist. She underwent several radiological studies, and examination under anaesthesia confirmed the diagnosis. Excision was performed resulting in complete resolution of her symptoms. Along with painful clunk in the wrist originating from the elbow, an enlarged radial tuberosity should raise a high index of suspicion, and MRI scans and examination under image intensification can aid in the diagnosis of radial tuberosity osteochondroma.

Case Report of a 21-Year-Old Man With Epidermolysis Bullosa Acquisita

2018 ◽  
Vol 22 (3) ◽  
pp. 356-358 ◽  
Author(s):  
Janelle Cyr ◽  
Annie Liu ◽  
Danny Ghazarian ◽  
Sanjay Siddha
Keyword(s):  
Epidermolysis Bullosa ◽  
Clinical Findings ◽  
Epidermolysis Bullosa Acquisita ◽  
Direct Immunofluorescence ◽  
Early Age ◽  
Minor Trauma ◽  
Dorsal Hand ◽  
History Of ◽  
Polyclonal Gammopathy ◽  
High Index Of Suspicion

Epidermolysis bullosa acquisita (EBA) is a rare acquired type of mechanobullous disease affecting the dermal-epidermal junction (DEJ) of trauma prone acral surfaces. It manifests as tense vesicles, bullae, and milia and typically heals as atrophic hypo- or hyperpigmented scars. Classic noninflammatory mechanobullous EBA typically presents at a mean age of 48 years. A 21-year-old man presented with a 2-year history of nonpainful papular-vesicular lesions on his hands, knees, and toes after minor trauma to these areas. Physical exam revealed postinflammatory hypopigmented scarring and milia to the bilateral dorsal hands and bilateral extensor elbows and knees, with tense blisters on the dorsal hand and patella regions. Direct immunofluorescence revealed strong linear IgG and IgM with weak focal positivity for IgA and C3 at the DEJ. Blood work revealed an increased diffuse gamma region of 71 g/L (6-13 g/L) on serum protein electrophoresis. Pathology showed a fibrotic underlying dermis, with subepidermal bullae and separation and no significant inflammation. The patient was started on colchicine. This case showcases an unusual early age of presentation for mechanobullous EBA and illustrates the importance of interpreting pathology in the context of clinical findings and maintaining a high index of suspicion for EBA in younger patients who present with classic findings. This case is unique as it is the first report of an association between EBA and polyclonal gammopathy and could be suggestive of chronic inflammation, which would fit with our patient’s chronic history of EBA.

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