Conus medullaris neuroschistosomiasis mimicking Guillain –Barre syndrome: A case of delayed diagnosis leading to permanent neurological damage
In conclusion, spinal NS should be considered in patients presenting with myeloradicular symptoms in regions endemic for schistosomal infection, as delayed recognition can result in irreversible outcomes. (Source: Clinical Case Reports)
Source: Clinical Case Reports - February 9, 2024 Category: General Medicine Authors: Nabil Aljuma'ai,
Saif A. Ghabisha,
Faisal Ahmed,
Taha Al ‐Mwald,
Abdullatif Almohtadi,
Mohamed Badheeb Tags: CASE REPORT Source Type: research
Delayed Sheehan's syndrome diagnosed during the evaluation of secondary infertility: A case report
Key Clinical MessageSheehan's syndrome may present with postpartum lactation failure and amenorrhea or with features of isolated hypopituitarism to panhypopituitarism. A high index of suspicion is required in a relevant clinical setting of postpartum hemorrhage. (Source: Clinical Case Reports)
Source: Clinical Case Reports - February 9, 2024 Category: General Medicine Authors: Surbhi Saxena,
Vishesh Verma,
Samir Samadarshi,
Thinley Dorji,
Jayaraman Muthukrishnan Tags: CASE REPORT Source Type: research
Vascular Ehlers ‐Danlos syndrome: A null COL3A1 variant found in a patient with loin pain without marked cutaneous features (case report)
Electropherogram produced by Sanger sequencing showing heterozygous COL3A1 variant NM_000090.4:c.712C 〉T p.(Arg238Ter) (indicated by arrow) detected in the proband. Key Clinical MessagePatients with null variants may have milder vascular Ehlers-Danlos syndrome, presenting with seemingly non-specific complaints and subtle cutaneous features that may be missed. A high index of suspicion and early genetic testing (aided by next-generation sequencing) were crucial for prevention of life-threatening complications in the patient and family members. (Source: Clinical Case Reports)
Source: Clinical Case Reports - February 9, 2024 Category: General Medicine Authors: Shreenidhi Ranganatha Subramaniam,
Lam Fung Yeung,
L. Y. Lois Choy,
Jeffrey Sung Shing Kwok Tags: CASE REPORT Source Type: research
Treatment of hypoglycemia due to a rare pathogenic variant in AKT2 with waxy maize heat ‐modified starch
This report suggests waxy maize heat is a viable treatment option.AbstractThe serine –threonine kinase AKT2 is a critical mediator of insulin's anabolic effects, particularly cellular glucose uptake. The gain-of-function c.49G>A, p.(Glu17Lys)AKT2 variant results in hypoketotic hypoglycemia with suppressed insulin and free fatty acid levels due to constitutive activation of the insulin signaling cascade. Although biochemical similarities exist among the eight individuals identified to date, the associated phenotype varies considerably. Treatment of these patients remains challenging, consisting primarily of frequent fe...
Source: Clinical Case Reports - February 9, 2024 Category: General Medicine Authors: Madeline Parker,
Daphne Yau Tags: CASE REPORT Source Type: research
A rare case of traumatic head arteriovenous fistula
We report a case of traumatic scalp and dural arteriovenous fistula with significant vascular malformation, which is important for our understanding of this disease. (Source: Clinical Case Reports)
Source: Clinical Case Reports - February 8, 2024 Category: General Medicine Authors: Lifan Shao,
Guangxin Cao Tags: CASE IMAGE Source Type: research
