International Journal of Human and Health Sciences (IJHHS)
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Published By International Journal Of Human And Health Sciences Ijhhs

2523-692x
Updated Saturday, 25 September 2021

Author(s):  
Steven Toh ◽  
Chean Chung Shen

Chronic relapsing inflammatory optic neuropathy (CRION) is a recently described form of recurrent isolated subacute optic neuropathy, with accumulating evidence that it is a nosological distinct entity. The condition is highly responsive to systemic steroid treatment and prone to relapse on steroid withdrawal. Diagnosis and management of this condition is often challenging. This 33-year-old lady with family history of multiple sclerosis (MS), with uniocular visual loss of her right eye since 2 years old without apparent cause, presented with reduction of vision and loss of colour vision in the left eye, associated with painful eye movement. There was internuclear ophthalmoplegia but slit lamp examination were unremarkable. She had no other related sensory or motor symptoms. Magnetic resonance imaging (MRI) did not reveal any features of MS. Aquaporin-4 antibody, anti-MOG and gene testing for Leber’s hereditary optic neuropathy were all negative. Metabolic, infective, and other autoimmune causes were also excluded. Visual evoked potential studies of left eye showed a mild reduction in amplitude with no prolongation of latency. Her multiple optic neuritis recurrences were treated with intravenous steroids followed by tapering regime of oral prednisolone with good effect. Knowledge of this rare condition as part of the differential diagnoses of possible aetiologies of optic neuropathy is important among Ophthalmologists, as prompt diagnosis and steroid treatment helped reduce the associated risk of blindness. Multiple relapses after initial successful treatment of inflammatory optic neuropathy should raise the suspicion of CRION.International Journal of Human and Health Sciences Supplementary Issue-2: 2021 Page: S19


Author(s):  
Ummu Afeera Binti Zainulabid ◽  
Muhammad Naimmuddin Bin Abdul Azih ◽  
Sasi Kumar A/L Maniyam ◽  
Azliana Binti Abd Fuaa ◽  
Mohd Radhwan Bin Abidin ◽  
...  

Pulmonary phaeohyphomycosis is a rare infection in the lung caused by black fungi containing a cytoplasmic melanin-like pigment. A 42-year-old man with underlying retroviral disease on HAART was investigated for having constitutional symptoms. Despite undetectable viral load and a high CD4 count, he was found to have unexplained significant loss of weight and appetite over a period of 6 months. Clinical examination revealed a cachexic man with multiple inguinal lymphadenopathies. Excisional biopsy of the inguinal lymph node revealed reactive follicular hyperplasia. CT Thorax, Abdomen and Pelvis was arranged to look for occult malignancy or infection and he was found to have multiple non-enhancing subcentimeter lung nodules mainly at the lateral segment of the right middle lobe of his lung. The largest nodule measured about 0.8 x 1.5 x 0.5 (AP x W x CC), with some nodules having an irregular margin with no extension into the adjacent bronchi. Bronchoscopy was done and demonstrated a black patch at the right intermedius, lateral segment of the middle lobe which did not disappear upon bronchial flush or wash. Histopathological examination found focal areas of blackish pigment and the bronchial alveolar lavage sent for fungal culture grew Cladosporium species. The patient was treated with oral Itraconazole with marked clinical improvement. This case highlights an unusual black fungi infection in the lung that stands out not only for its rarity and it's responsiveness to treatment, but also the susceptibility of an RVD positive patient to this infection despite having suppressed viral load and normal CD4 count.International Journal of Human and Health Sciences Supplementary Issue-2: 2021 Page: S17


Author(s):  
Amalina Che Din ◽  
Celine Fong ◽  
Chon Sum Ong

The occurrence of symptomatic Rathke's cleft cyst (RCC) apoplexy is extremely rare. This is often misdiagnosed due to similar presentations to subarachnoid haemorrhage and pituitary apoplexy. This case highlights an excellent example of similar clinical presentation and serves as a learning case for clinicians. A 40-year-old lady presented to a district hospital with 9 days of worsening severe headache associated with blurring of vision, photophobia, stiff neck, nausea and vomiting. Nuchal rigidity and Brudzinski’s positive. Blood test showed hyponatremia, raised inflammatory markers and normal dynamic pituitary function test. CT Head demonstrated no evidence of space-occupying lesion or intracranial haemorrhage. Lumbar puncture showed xanthochromia positive consistent with subarachnoid haemorrhage. MRI head advised by Neurosurgery team and revealed a focal lesion involving anterior pituitary macroadenoma with mass effect on optic chiasm with possible haemorrhage within. Further assessment in tertiary hospital confirmed loss of visual acuity and field deficit. Patient underwent emergency endoscopic transnasal transsphenoidal resection of apoplectic tumour and repair of CSF leak with graft from thigh. Histopathology report showed a Rathke’s cleft cyst with squamous metaplasia. Post operatively, the patient developed sinusitis which fully recovered, and MRI showed good decompression. The author demonstrated a rare case of symptomatic RCC which was initially presumed to be pituitary apoplexy. Radiology imaging and treatment approach for both conditions are quite similar and can only be differentiated by histopathology. Further research is required to identify the causes and risk factors of RCC apoplexy to aid early detection and diagnosis.International Journal of Human and Health Sciences Supplementary Issue-2: 2021 Page: S23


Author(s):  
Shahrizan Majid Binti Allapitchai

Leprosy is a chronic infectious disease caused by Mycobacterium leprae, predominantly affecting the skin and peripheral nerves. Lucio phenomenon is a rare reactional state presenting in patient with lepromatous leprosy and described as acute cutaneous necrotising vasculitis. We discussed the case of a 38-year-old male patient presenting with oedematous and dusky discolouration of bilateral hands and feet associated with diffuse facial involvement. His skin condition gradually worsened to form multiple ulcers with bizarre shaped purpuric lesion over bilateral upper and lower limbs, trunk, and face. Histopathological examination of the skin biopsy showed multiple acid-fast bacilli and diagnosis of Lucio’s phenomenon was made in the background of lepromatous leprosy. He was treated with multi drug therapy (MDT) as recommended by the WHO guidelines. A better understanding of rarer manifestation of this illness is important for early diagnosis and to prevent significant morbidity associated with it.International Journal of Human and Health Sciences Supplementary Issue-2: 2021 Page: S20


Author(s):  
Khalilah Alhuda Binti Kamilen ◽  
Mohd Yusran Othman

Intussusception is a well-known cause of intestinal obstruction in children. Its occurrence in fetus as an intrauterine incidence is extremely rare and poses a diagnostic difficulty. Intrauterine intussusception may result in intestinal atresia once the gangrenous segment resorbed. However, a very late occurrence of intussusception just prior to delivery may present as meconium peritonitis. We are reporting a case of premature baby who was born at 35 weeks gestation via emergency caesarean for breech in labour. Routine scan 4 days prior to the delivery showed evidence of fetal ascites. She was born with good Apgar Score and weighed 2.5kg. Subsequently she developed respiratory distress syndrome requiring mechanical ventilation. She passed minimal meconium once after birth then developed progressive abdominal distension and vomiting. Abdominal radiograph on day 4 of life revealed gross pneumoperitoneum and bedside percutaneous drain was inserted to ease the ventilation. Upon exploratory laparotomy, a single ileal perforation was seen 20cm from ileocecal junction with an intussusceptum was seen in the distal bowel. Gross meconium contamination and bowel edema did not favour the option of primary anastomosis, thus stoma was created. Reversal of stoma was performed a month later and she recovered well. Fetus with a complicated intrauterine intussusception may present with fetal ascites and their postnatal clinical and radiological findings need to be carefully assessed for evidence of meconium peritonitis; in which a timely surgical intervention is required to prevent the sequelae of prolonged intraabdominal sepsis in this premature baby.International Journal of Human and Health Sciences Supplementary Issue-2: 2021 Page: S18


Author(s):  
Chon Sum Ong ◽  
Nur Amalina Binti Che Din ◽  
Celine Mien Er Fong ◽  
Amira Nabiha Binti Jamalludin

An accident with a tamping iron made Phineas Gage a historically famous brain-injury survivor. (1) Each year, approximately 1.6 million people sustain traumatic brain injury, leading to 52,000 deaths annually. (2) However, there is limited literature regarding traumatic brain penetration injury that could be found. A 42-year-old male with psychosis forcefully inserted a butter knife through nostril, traversed via sella turcica into posterior corpus callosum in a mental health facility. He was intubated in his local hospital and transferred over to a tertiary hospital for neurosurgical intervention. Radiological imaging showed impingement of knife against the posterior cerebral artery (PCA), multiple brain infarcts, intraventricular, and subarachnoid haemorrhage. The knife was removed after securing the PCA with the collaboration between neurosurgery and interventional radiology team. Sinus repair was immediately performed by the otorhinolaryngologists. External ventricular drain was inserted due to hydrocephalus secondary to brain haemorrhage. He eventually developed ventriculitis leading to sepsis and was treated with multiple antibiotics. The traumatic brain injury led to anterior hypopituitarism and diabetes insipidus which was treated using hormone therapy. He not only survived the fatal brain injury but also regained his Glasgow Coma Scale (GCS) score. This case demonstrates the potential of a multi-disciplinary and specialty approach to achieve outcomes a single specialty team could not. The outcome of a case which was deemed to be a non-survivable brain injury was made different due to the bold decision making, experience and innovative surgical strategy. Future research is needed to better understand and manage brain penetration injury.International Journal of Human and Health Sciences Supplementary Issue-2: 2021 Page: S27


Author(s):  
Muhammad Farid Bin Mohd Fauad ◽  
Hazlyna Baharuddin ◽  
Mohd Arif Mohd Zim ◽  
Bushra Johari

Pulmonary embolism (PE) was reported in about 9% patients with antiphospholipid syndrome (APS). Seronegative APS is an entity which demonstrates clinical manifestations highly suggestive of APS but persistently negative APS antibodies. A 31-year-old lady presented with a two-month history of exertional dyspnoea. She had two consecutive miscarriages at 12 and 14 weeks, previously. Physical examination revealed a thin lady who was tachycardic, tachypneic, hypoxic but normotensive. There was a loud P2 without signs of heart failure. Investigations revealed a type 1 respiratory failure, sinus tachycardia with right ventricular strain pattern, cardiomegaly with normal lung fields, and dilated right atrium and right ventricle with increased in pulmonary arterial pressure of 70mmHg from echocardiography. CT pulmonary angiography (CTPA) confirmed the presence of PE over bilateral pulmonary arteries. She continued to have exertional dyspnoea and was readmitted 9 months later with worsening dyspnoea. APS antibodies performed during both admissions were negative. Seronegative APS was diagnosed. Interestingly, two CTPAs performed at 6 months and 9 months after initial presentation revealed persistent bilateral pulmonary embolism. The provoking factors for PE should be sought because ‘unprovoked’ PE especially in young individuals need further attention. APS, including seronegative APS, should be considered. Persistence of symptoms of PE also warrants further attention as chronic thromboembolic pulmonary hypertension (CTEPH) may be the cause. Currently, there are available medical and surgical treatment of CTEPH, therefore establishing its diagnosis is important and it is best performed in pulmonary hypertension expert centre.International Journal of Human and Health Sciences Supplementary Issue-2: 2021 Page: S25


Author(s):  
John Ong Ying Wei ◽  
Tin Chan ◽  
William Lo ◽  
Buddhika Wimalachandra

Atlantoaxial rotary subluxation (AARS) is a rare condition that may cause persistent torticollis if not treated appropriately. AARS is associated with ligamentous abnormalities, which may result from acquired or congenital disorders. We report the case of a paediatric patient with congenital Marfan syndrome and AARS due to a minor traumatic head injury. A 9-year-old boy with a known diagnosis of Marfan syndrome (and extensive family history) encountered a traumatic head injury that presented as torticollis with a typical “cock-robin” head and neck orientation. AARS was diagnosed through a head and neck CT scan. He underwent initial conservative treatment involving a muscle relaxant (diazepam) and Miami-J collar. This was followed up with manipulation under anaesthesia (MUA) and further cervical traction, which resolved the subluxation without more invasive treatment. To the best of our knowledge, AARS associated with Marfan syndrome has been rarely reported in literature. It is postulated that the ligamentous laxity associated with Marfan syndrome would increase the patient’s predisposition to AARS and more importantly, the propensity to require more invasive treatment (internal fixation). However, our patient unexpectedly responded well to conservative management, namely MUA and cervical traction. This illustrates that despite the increased ligamentous laxity in Marfan syndrome, it is still advisable to conservatively manage AARS before deciding to perform invasive internal fixation.International Journal of Human and Health Sciences Supplementary Issue-2: 2021 Page: S15


Author(s):  
Noor Aqilah Binti Ashamuddin ◽  
Sabariah Binti Mohd Noor ◽  
Irni Binti Mohd Yasin

Neonatal alloimmune thrombocytopenia (NAIT) is the leading cause of thrombocytopenia in otherwise healthy new-born. (1,2) Maternal antibodies raised against paternally inherited alloantigen carried on fetal platelet causing NAIT. Maternal IgG antibodies passed through to the fetal via the placenta, attack and cause the destruction of the fetal platelet. (3) We present a case of NAIT without any complications in a premature baby (35 weeks) with VACREL association, G6PD deficiency, left calcified cephalohaematoma, cardiomegaly and hypospadias with severe thrombocytopenia (platelet counts is 23 109/L) at day two of life and received twice platelet transfusion. Platelet count initially 123 109/L at birth but significantly drop and persistently less than 50 109/L until day 10 of life before it normalized. Maternal serum antibody screening was negative, but platelet immunology test detected maternal platelet-reactive antibody Anti-HLA Class I and correlates with incompatible parental crossmatch indicating that parent had “platelet-antigen incompatibility”. The goal of obstetric management is to identify pregnancies at risk and prevent intracranial haemorrhage. (4) There is no evidence to support routine screening for pregnancies as per current practice. (2, 5) The latest treatments include maternal administration of intravenous immunoglobulin to suppress maternal antibody production and or to reduce placental transfer of antibodies; with or without steroids during antepartum period besides planning of mode, timing and method of delivery. (2, 5, 6, 7) This is a rare and unique case of NAIT secondary to Anti-HLA Class I antibody and hence clinician should be au fait with the diagnosis and management as it is infrequent among Malaysian.International Journal of Human and Health Sciences Supplementary Issue-2: 2021 Page: S21


Author(s):  
Sharifah NurDurrah Binti Syed Mudzhar ◽  
Mohd Yusran Othman

Tuberous Sclerosis Complex (TSC) is a rare neuro-cutaneous disorder that is associated with the development of benign hamartomas including renal angiomyolipoma (RAML). TSC associated RAML are usually asymptomatic, but it carries a life-threatening bleeding risk. We are sharing a case of a 5-year-old girl who was diagnosed to have TSC with associated subependymal giant cell astrocytoma, cardiac rhabdomyoma and autism. She presented with a history of worsening abdominal distension over 3 weeks duration and clinically noted to be pale with a ballotable left flank mass. Ultrasound and CT scan found to have multiple RAML in both kidneys with a huge mass on the left side. The mass represented a huge RAML (8cm) with aneurysmal formation with suspicion of intratumoral bleeding. The option of conservative management with mammalian target of rapamycin inhibitor followed with partial nephrectomy has been questioned with its life-threatening risk of bleeding and inability to do biopsy to rule out the possibility of renal cell carcinoma. Decision for nephrectomy was then made clearer following a MAG-3 scan which revealed only 11% differential function of the left kidney. She underwent a total left nephrectomy uneventfully and intraoperatively noted to have an enlarging lesion as compared to the previous imaging; 15cm in largest diameter. Histopathological finding was consistent with multifocal angiomyolipoma with intratumoral haematoma. Decision for nephrectomy in TSC-associated RAML need to be justified carefully in view of its risk of losing the contralateral kidney following the disease progression which may end up with life-long renal replacement therapy.International Journal of Human and Health Sciences Supplementary Issue-2: 2021 Page: S26


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