Rheumatology case challenge: A 20-year old female with persistent headache and subsequent blurred vision

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Rheumatology case challenge: A 20-year old female with persistent headache and subsequent blurred vision

A 20-year-old unmarried female presented at the medicine outpatient department with complaints of headache for 8 months and blurring of vision for 6 months. The headache was global, persistent, and with increasing severity. It was also associated with disturbed sleep, frequent nausea, and vomiting. Two months after the development of headache, she noticed progressive blurring of vision in both the eyes. She denied any history of fever or focal neurological deficit including seizure, cranial nerve palsies or hemiparesis. There was no history suggestive of arterial or venous thrombotic event in the past. The woman was nulliparous and without any bad obstetric history. She had no history of skin rash, arthralgia, alopecia, photosensitivity, or low-grade fever.

She was normotensive and other general examinations were found to be normal. Additionally, no abnormal findings were noted during neurological examination and while measuring pupillary reactivity. However, a decrease in visual acuity (20/50) was noted and the fundoscopic examination revealed bilateral optic atrophy. Initial laboratory data revealed sedimentation rate of 23 mm/h, hemoglobin of 10.8 g/dl with normal indices, white blood count of 8.2x103/mm3, and platelet count of 370,000/mm3. Liver function and renal function tests were within normal limits. Urine routine and microscopy was unremarkable with absence of cells, casts, and bacteria. Chest radiography and ECG were normal. EEG revealed slowing of all cortical background rhythms. Cerebrospinal fluid (CSF) obtained through lumbar puncture was clear and colorless, and with protein and glucose levels of 20 mg/dl and 42 mg/dl respectively. Opening pressure of CSF noted in sitting posture was 700 mm water (normal value 200-400 mm water). CSF adenosine deaminase was within the normal limit. Microbial tests for CSF such as acid-fast bacilli staining, PCR for tuberculosis, and test for fungal infection by India ink yielded negative results.

Anti-nuclear antibody and anti-double-stranded DNA were within the normal limits. CT scan of brain revealed large, dilated ventricles. Both lateral ventricles, and third and fourth ventricles were prominently dilated, and all cisterns of the posterior fossa and suprasellar cistern were also dilated. All these findings suggested that the patient had gross communicating hydrocephalus. No neural parenchymal lesion or pathologic contrast enhancement was found in the CT scan. Contrast-enhanced magnetic resonance venography showed patchy filling defects in superior sagittal sinus and bilateral cortical veins, indicating the occurrence of thrombosis.

1 / 7

Which of the following conditions is most likely responsible for the patient's symptoms and findings?

2 / 7

What are the possible work-up required in the current case?

The possibility of APLA was high since the patient was also ANA positive and hence the test was sent and found to have abnormal increase in the levels of anticardiolipin (aCL) IgG antibody (81.6 GPLU/ml; normal <10 GPLU/ml), lupus anticoagulant (dRVVT-1.88; normal <1.3), and anti-β2-glycoprotien 1 IgM (68.00 U/ml; normal ≤20 MPLU/ml) was also reported. Based on the study results, a provisional diagnosis of primary APS with intracranial sinus and cortical vein thrombosis with gross communicating hydrocephalus was made. The occurrence of raised intracranial tension with secondary optic atrophy was also documented. Analysis conducted after 12 weeks also showed an increase in aCL IgG titre (38.2 GPLU/ml), and a positive lupus anticoagulant (dRVVT-1.45), thus confirming the diagnosis of primary APS according to the revised 2006 Sapporo classification criteria. 

3 / 7

Which laboratory finding strongly supports the diagnosis of primary APS in this case?

4 / 7

According to the revised 2006 Sapporo classification criteria, what additional confirmatory evidence is required for the diagnosis of primary APS?

5 / 7

Which of the following is not a clinical criterion for the diagnosis of APS according to the Sapporo classification criteria?

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In addition to vascular thrombosis, what other clinical criterion is considered for the diagnosis of APS?

The patient was initiated with low-molecular-weight heparin injection (LMWH; 0.4ml, s/c BD) along with oral warfarin 3mg/day to maintain the international normalized ratio between 2 to 3. The administration of LMWH was subsequently withdrawn. The patient also underwent shunting operations to circumvent the raised intracranial tension. Following the shunting operation and the anticoagulant therapy, a significant improvement in symptoms such as headache, vomiting, and blurred vision was noted. Follow-up conducted after 2 months showed a marked decrease in all the symptoms except for modest improvement in blurred vision (visual acquity-20/30).

7 / 7

Considering the initial presentation of global, persistent headache and subsequent blurred vision, what diagnostic challenges might healthcare professionals encounter in distinguishing primary antiphospholipid syndrome (APS) from other neurological conditions?

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