A 4-year-old male child with global developmental delay and West syndrome which is characterised by classical triad of infantile spasms, hypsarrhythmia and developmental arrest or regression [14] was brought to the emergency with complaints of right eye proptosis and eyelid swelling for 10 days and left eyelid swelling for a week. There was no history of trauma, surgery, insect bite or any history suggestive of non-accidental trauma. There was no history of similar complaints in the past.
On examination, there was periorbital swelling with slight bluish discolouration around the eyes, especially on the right, and limitation of movement in the right eye. There were no other mucocutaneous lesions elsewhere in the body. In view of periorbital swelling associated with bluish discolouration, skull radiograph (Fig. 1) followed by computed tomography (Fig. 2) of the head without contrast was performed which revealed no evidence of any skull base fracture or intracranial bleed. The soft tissue window CT images revealed heterogeneously mildly hyperdense soft tissue like lesions in bilateral superior extraconal spaces (right > left) needing further characterization. The patient was then referred to the paediatric department for detailed evaluation.
General physical examination revealed microcephaly, high-arched palate, coarse facies and pallor. Local examination revealed right eye swelling and restricted ocular movement, conjunctival chemosis, exposure keratitis and ecchymosis in both eyelids. Patient had poor oral hygiene with history of bleeding gums intermittently. The CNS examination revealed bilateral upgoing plantar reflexes; the tone was increased in both limbs with their power was 2/5. Deep tendon reflexes were present. The patient also had tender lower limbs and a limp. However, no obvious discolouration or open wounds were seen at the lower limbs. The child was not breast fed and had a predominant milk-based diet. The rest of systemic examination revealed no significant abnormality.
Laboratory investigations revealed anaemia (hemoglobin 6.3mg/dl) with a normal total white blood cell count (10.3 × 109/L), platelet count (2.52 × 105/uL) and coagulation profile (PT 12.5s, INR 1.0). The liver function tests (total protein 7.2g/dL, serum albumin 3.4 g/dL, ALP 95 IU) and kidney function tests (blood urea 22mg/dL, serum creatinine 0.22 mg/dL) were within normal limits.
In view of the periorbital swelling with bluish discolouration, no evidence of fracture on cranial CT scan and extraconal heterogeneously mildly hyperdense lesions, the patient was referred for ultrasound of the abdomen to rule out abdominal mass lesion such as neuroblastoma. Ultrasound abdomen did not reveal any abnormality. An MRI examination of orbit and brain was also requested to exclude possibility of intraorbital mass lesion or metastasis.
MRI (Fig. 3) showed smoothly marginated collections in extraconal location along the roof of both orbits, displacing superior recti muscle inferiorly with maintained intervening fat planes. They appeared uniformly hyperintense on T1W, T2W and FLAIR images without any signal suppression on fat-saturated images. Findings suggested subperiosteal hematomas. Both globes, extraocular muscles and optic nerves, appeared normal in morphology and intensity. No intraorbital soft tissue mass lesion was noted.
Radiographs of both knee joints (Fig. 4) were also done to evaluate the cause for his limp. They revealed dense metaphyseal bands at both distal femoral physes with adjacent proximal horizontal bands of radiolucency suggestive of zone of provisional calcification with Trummerfeld zones. Mild flaring along metaphyseal corners was noted at distal femoral metaphysis suggestive of Pelkan spurs. Distal femoral epiphyses appeared centrally lucent with sharply marginated sclerotic rim giving the Wimberger ring sign. Similar findings were also seen at both proximal tibial physes. The findings were highly suggestive of scurvy. However, there was no periosteal elevation or soft tissue opacities along diaphysis of long bones.
Based on the constellation of leg pain, bleeding gums, dietary history, mentally challenged condition along with lower limb radiographic findings and orbital hemorrhages confirmed on MRI, a final diagnosis of scurvy was made.
The patient could not afford serum ascorbic acid levels; however, the child was administered vitamin C empirically following which a drastic improvement was observed in the clinical condition of the child. Rapid clinical recovery with vitamin C-based treatment was used as surrogate diagnostic confirmation criteria. Following a week of treatment, left orbital USG revealed complete resolution of the collection while right orbital USG revealed reduction in the size of the collection appearing heterogeneously hypoechoic with fine internal moving echoes, superior to the right globe.