1.Recurrent hypokalemia in an adult male: A case report on gitelman’s syndrome
Ralph Philip C. Nierre, MD ; Bayani Pocholo T. Maglinte, MD ; Jeremyjones F. Robles, MD
Philippine Journal of Internal Medicine 2023;61(2):72-76
Introduction:
Gitelman Syndrome (GS), a rare autosomal recessive inherited disorder, is frequently unrecognized in the
clinical setting. GS typically manifests with severe hypokalemia with debilitating and potentially fatal consequences if
untreated. As of writing, confirmatory genetic assays are currently unavailable in the country, and the diagnosis of GS is
primarily based on several biochemical laboratory tests. This results in the difficulty with prompt diagnosis of GS in the
locality.
Case:
We present a 52-year-old male who came in with chronic, intermittent paraparesis associated with persistent
hypokalemia. A diagnosis of GS was made biochemically based on renal wasting of potassium and magnesium,
hypocalciuria, and metabolic alkalosis. Electrolyte correction with lifelong supplementation, and administration of
Spironolactone resulted in the resolution of bilateral leg weakness. Electrolyte levels were maintained within normal limits
in the outpatient setting.
Conclusion
GS is an uncommon potentially debilitating disorder that may lead to problematic, potentially fatal
consequences to electrolyte abnormalities if left untreated. The lack of awareness and consequent delay in the diagnosis,
and the unavailability of confirmatory genetic testing remains a clinical challenge. Timely recognition and initiation of
treatment leads to early control of electrolyte levels, and better prognosis.
Gitelman&rsquo
;
s Syndrome
;
Paraparesis
;
Hypokalemia
;
Hypomagnesemia
;
Spironolactone
;
Case Report
2.Paraparesis in a young adult: A case report on Neurofibromatosis-2
Tristan M. Colasito ; Bayani Pocholo T. Maglinte ; Jeremyjones F. Robles
Philippine Journal of Internal Medicine 2022;60(4):313-316
Background:
Neurofibromatosis-2 (NF2) is a rare neurocutaneous syndrome that typically presents with hearing loss,
tinnitus, or weakness associated with few subcutaneous nodules. In contrast to neurofibromatosis-1 (NF1), NF2 presents clinically with more central lesions rather than peripheral lesions. The presence of bilateral vestibular schwannomas through imaging studies distinguishes NF2 from other neurocutaneous syndromes.
Case:
This is a case of an 18-year-old male who presented with lower paraparesis with associated hearing loss, cataract, and a few subcutaneous nodules. Centrally located lesions were suspected, thus brain and spine magnetic resonance imaging (MRI) were done revealing bilateral vestibular schwannomas and spine neurofibromas. The patient and family were advised for tumor surveillance, and apprised of surgical intervention once with brainstem compression symptoms.
Conclusion
NF2 is a rare debilitating disease that may lead to multiple neurologic deficits. The absence of recommended medical treatment and the multifocality of the tumors leave surgical resection a high-risk treatment option. Early recognition by tumor surveillance may give patients with NF2 a better prognosis and survivability.
Neurofibromatoses
;
Neurilemmoma
;
Neurofibroma
;
Paraparesis
;
Bevacizumab
3.Segmental Zoster Paresis:Report of One Case and Literature Review.
Wen Han LI ; Pan ZHANG ; Meng Ting ZHU ; Xiang Yu XU ; Long JIN ; Jian LUO ; Cai Gui LUO ; Jun Hui QIAN
Acta Academiae Medicinae Sinicae 2020;42(6):836-839
Segmental zoster paresis(SZP)is a rare complication in herpes zoster infection,with its symptoms often neglected due to the co-existence of pain.Here we reported a case of SZP.Also,we analyzed 42 Chinese SZP cases in literature,which revealed that the male to female ratio of SZP patients was 13∶8,and the median age of disease onset was 65 years.The most commonly affected region is upper limb.The diagnosis depends mainly on typical medical history and clinical symptoms.Although there is no definite therapy for SZP,the antiviral therapy is the most commonly used treatment,which achieved complete recovery in 78.6% of the patients and partial recovery in 14.3% of the patients.
Aged
;
Female
;
Herpes Zoster/diagnosis*
;
Humans
;
Male
;
Paresis/etiology*
;
Upper Extremity/physiopathology*
4.Primary Intraparenchymal Central Nervous System Solitary Fibrous Tumor/Hemangiopericytoma Presenting with Intracerebral Hemorrhage: A Case Report
Myeong Hun HA ; Tae Young JUNG ; Seul Kee KIM ; Kyung Hwa LEE ; Daru KIM
Brain Tumor Research and Treatment 2019;7(1):53-56
A 53-year old man who had a left hemiparesis from head injury of traffic accident 20 years ago visited an emergency room with suddenly developed semi-comatose mental status. Brain CT showed 8.6-cm sized solid and cystic mass on right temporal lobe that was associated with hemorrhage. Solid lesion showed a strong enhancement after an administration of contrast media. Because of severe mass effect, emergency operation was performed. The mass was an intraparenchymal lesion with yellowish cystic fluid and the firm reddish-brown solid lesion was hemorrhagic. The lesion was totally resected. Pathologically, anaplastic solitary fibrous tumor/hemangiopericytoma was diagnosed with 70/10 high power fields. Postoperative radiotherapy of 50 Gy was done. Postoperative 2 months later, the patient was recovered to alert mental state. We report this unusual case of non-dural based intraparenchymal solitary fibrous tumor/hemangiopericytoma with high mitotic index and acute massive hemorrhage. Rapid tumor growth of hypervascular tumor might have a chance of bleeding.
Accidents, Traffic
;
Brain
;
Brain Neoplasms
;
Central Nervous System
;
Cerebral Hemorrhage
;
Contrast Media
;
Craniocerebral Trauma
;
Emergencies
;
Emergency Service, Hospital
;
Hemangiopericytoma
;
Hemorrhage
;
Humans
;
Mitotic Index
;
Paresis
;
Radiotherapy
;
Solitary Fibrous Tumors
;
Temporal Lobe
5.A Case of Recurrent Supratentorial Extraventricular Anaplastic Ependymoma in Adult
Sung Won SEO ; Ho Jun KANG ; Min Seok LEE ; Sang Jun SUH ; Yoon soo LEE ; Jeong Ho LEE ; Dong Gee KANG
Brain Tumor Research and Treatment 2019;7(1):44-47
Supratentorial extraventricular anaplastic ependymoma (SEAE) in adults is a relatively rare intracranial tumor. Because of the very low prevalence, only a few cases have been reported. According to a recent study, SEAE is associated with a poor prognosis and there is no definite consensus on optimal treatment. We report a case of an adult SEAE patient who had no recurrence until seven years after a gross total resection (GTR) followed by conventional radiotherapy. A 42-year-old male had a persistent mild headache, left facial palsy, dysarthria, and left hemiparesis. Preoperative neuroimaging revealed an anaplastic astrocytoma or supratentorial ependymoma in the right frontal lobe. A GTR was performed, followed by adjuvant radiotherapy. Histologic and immunohistochemical results revealed anaplastic ependymoma. After seven years of initial therapy, a regular follow-up MRI showed a 3-cm-sized partially cystic mass in the same area as the initial tumor. The patient underwent a craniotomy, and a GTR was performed. Histopathologic examination revealed recurrence of the SEAE. External radiotherapy was performed. The patient has been stable without any disease progression or complications for 12 months since the surgery for recurrent SEAE.
Adult
;
Astrocytoma
;
Consensus
;
Craniotomy
;
Disease Progression
;
Dysarthria
;
Ependymoma
;
Facial Paralysis
;
Follow-Up Studies
;
Frontal Lobe
;
Headache
;
Humans
;
Magnetic Resonance Imaging
;
Male
;
Neuroimaging
;
Paresis
;
Prevalence
;
Prognosis
;
Radiotherapy
;
Radiotherapy, Adjuvant
;
Recurrence
;
Supratentorial Neoplasms
6.Combined Therapy With Functional Electrical Stimulation and Standing Frame in Stroke Patients
Joung Bok LEE ; Sang Beom KIM ; Kyeong Woo LEE ; Jong Hwa LEE ; Jin Gee PARK ; Sook Joung LEE
Annals of Rehabilitation Medicine 2019;43(1):96-105
OBJECTIVE: To investigate the effects of combination functional electrical stimulation (FES) and standing frame training on standing balance in stroke patients. METHODS: Patients who had hemiparesis and postural instability after stroke were randomly assigned to one of the two groups; study group underwent FES on the quadriceps and tibialis anterior muscle simultaneously with standing balance training. The control group received standing frame training and FES separately. Both the groups received their respective therapies for 3 weeks. Stability index in Biodex Balance master system, Berg Balance Scale (BBS), manual muscle test, the Korean version of Modified Barthel Index, and Korean version of Mini-Mental State Examination were used to evaluate the effects of the treatment. RESULTS: In total, 30 patients were recruited to the study group and 30 to the control group. Three weeks after treatment, both the groups showed improvement in postural stability scores and physical and cognitive functions. When changes in postural stability were compared between the groups, the study group showed more significant improvement than the control group with regards to the scores of BBS and the stability indices. CONCLUSION: In this study, we found the therapeutic effectiveness of combined therapy of FES and standing frame in subacute stroke patients. The presented protocol is proposed as time-saving and can be applied easily in the clinical setting. Thus, the proposed combined therapy could be a useful method for improving standing balance in subacute stroke patients.
Cognition
;
Electric Stimulation
;
Humans
;
Methods
;
Paresis
;
Rehabilitation
;
Stroke
7.Long-Term Changes in Video Head Impulse and Caloric Tests in Patients with Unilateral Vestibular Neuritis.
Hyun Jin LEE ; Sung Huhn KIM ; Jinsei JUNG
Korean Journal of Otolaryngology - Head and Neck Surgery 2019;62(1):23-27
BACKGROUND AND OBJECTIVES: Video head impulse tests (vHITs) and caloric tests are widely used to assess the loss of vestibular function in acute vestibular neuritis. Although previous studies have reported on the results of each test, longitudinal comparison of these tests is rare. In the present study, vHITs and caloric tests were performed in patients with unilateral vestibular neuritis during the acute phase and after a long follow-up period (>6 months). The goal of this study was to evaluate the changes in vHIT and caloric test results and to analyze the relationships between them. SUBJECTS AND METHOD: Between September 2013 and December 2015, charts from 13 patients with unilateral vestibular neuritis were retrospectively reviewed. Among the 13 patients, caloric tests and vHITs were performed in 9 and 10 patients, respectively. Results of the vHITs and caloric tests were analyzed and the changes were compared. RESULTS: During the acute phase of vestibular neuritis, the results of the caloric test showed an increase in canal paresis (CP), and the results of the vHIT showed a decrease in horizontal gain. Although subjective symptoms improved in all patients after a long follow-up period (mean: 13.9 months), the occurrence of CP determined from the caloric test was not significantly changed (p=0.889). On the other hand, the mean horizontal gain of the vHIT had improved significantly (p < 0.05). CONCLUSION: While CP determined from the caloric test did not change after a long follow-up period, the decreased horizontal gain in the vHIT was significantly recovered in patients with unilateral vestibular neuritis.
Caloric Tests*
;
Follow-Up Studies
;
Hand
;
Head Impulse Test
;
Head*
;
Humans
;
Methods
;
Paresis
;
Retrospective Studies
;
Vestibular Neuronitis*
8.Pattern of Extraocular Muscle Involvements in Miller Fisher Syndrome
Won Yeol RYU ; Yoo Hwan KIM ; Byeol A YOON ; Hwan Tae PARK ; Jong Seok BAE ; Jong Kuk KIM
Journal of Clinical Neurology 2019;15(3):308-312
BACKGROUND AND PURPOSE: The most-common initial manifestation of Miller Fisher syndrome (MFS) is diplopia due to acute ophthalmoplegia. However, few studies have focused on ocular motility findings in MFS. This study aimed to determine the pattern of extraocular muscle (EOM) paresis in MFS patients. METHODS: We consecutively recruited MFS patients who presented with ophthalmoplegia between 2010 and 2015. The involved EOMs and the strabismus pattern in the primary position were analyzed. Antecedent infections, other involved cranial nerves, and laboratory findings were also reviewed. We compared the characteristics of the patients according to the severity of ophthalmoplegia between complete ophthalmoplegia (CO) and incomplete ophthalmoplegia (IO). RESULTS: Twenty-five patients (15 males and 10 females) with bilateral ophthalmoplegia were included in the study. The most-involved and last-to-recover EOM was the lateral rectus muscle. CO and IO were observed in 11 and 14 patients, respectively. The patients were aged 59.0±18.4 years (mean±SD) in the CO group and 24.9±7.4 years in the IO group (p<0.01), and comprised 63.6% and 21.4% females, respectively (p=0.049). Elevated cerebrospinal fluid protein was identified in 60.0% of patients with CO and 7.7% of patients with IO (p=0.019) for a mean follow-up time from the initial symptom onset of 3.7 days. CONCLUSIONS: The lateral rectus muscle is the most-involved and last-to-recover EOM in ophthalmoplegia. The CO patients were much older and were more likely to be female and have an elevation of cerebrospinal fluid protein than the IO patients.
Cerebrospinal Fluid
;
Cranial Nerves
;
Diplopia
;
Female
;
Follow-Up Studies
;
Guillain-Barre Syndrome
;
Humans
;
Jupiter
;
Male
;
Miller Fisher Syndrome
;
Ophthalmoplegia
;
Paresis
;
Strabismus
9.Thoracic Spinal Cord Infarction Presenting as Isolated Monoplegia
Hyoshin SON ; Jin Ah KIM ; Seonkyung LEE ; Hyung Min KWON
Journal of the Korean Neurological Association 2019;37(3):307-309
No abstract available.
Anterior Spinal Artery Syndrome
;
Hemiplegia
;
Infarction
;
Paresis
;
Spinal Cord
10.Unilateral loss of thoracic motion after blunt trauma: a sign of acute Brown-Séquard syndrome
Mizuki SATO ; Akira KURIYAMA ; Ryo OHTOMO
Clinical and Experimental Emergency Medicine 2019;6(3):268-271
Late-onset Brown-Séquard syndrome (BSS) is a rare condition resulting from a spinal cord injury that develops weeks to years after a blunt trauma. Acute-onset BSS after a blunt injury has been rarely reported. Here, we report on a case of BSS, in a 58-year-old man, that developed immediately after a motor vehicle accident. Upon admission, loss of right thoracic motion, complete right paresis, and loss of pain and temperature sensations below the C3 level on the left side were observed. Magnetic resonance imaging showed hyperintensities within the cervical spinal cord at the C2–C3 level, confirming the diagnosis of BSS. Thoracic motion rapidly recovered, but other neurological sequelae persisted. BSS related to cervical cord injury should be suspected when patients develop hemiparesis and contralateral sensory loss immediately after a blunt trauma. Likewise, clinicians should be aware that unilateral loss of thoracic motion could be an important sign of BSS.
Brown-Sequard Syndrome
;
Cervical Cord
;
Diagnosis
;
Humans
;
Magnetic Resonance Imaging
;
Middle Aged
;
Motor Vehicles
;
Paresis
;
Sensation
;
Spinal Cord Injuries
;
Wounds, Nonpenetrating


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