Malignant infantile osteopetrosis with rickets presenting with bicytopenia in septic shock: case report

Malignant infantile osteopetrosis is a rare, fatal autosomal recessive disorder due to abnormal osteoclast activity. We report a 1-year-old infant, born to consanguineously married couple, who presented to our ER with acute respiratory distress and bicytopenia. He had tender hepatomegaly, splenomegaly, failure to thrive and features of rickets. He was evaluated previously for possible hydrocephalus secondary to his abnormal shape of head with proptosis, MRI revealed a subarachnoid cyst, but possibility of osteopetrosis was missed. Skeletal radiographs done later detected dense, sclerotic bone with sandwich vertebra, provided a delayed diagnosis of MIOP. Rickets, a paradoxical association, was also seen in our case, with low serum calcium and vitamin D3 levels. He succumbed due to severe bronchopneumonia with septic shock. Early diagnosis and timely hematopoietic stem cell transplant are the only curative approach for MIOP, which is otherwise fatal.

Intradural spinal arachnoid cyst contributing to sudden paraparesis

Background: Spinal arachnoid cysts are cystic lesions filled with cerebrospinal fluid that contributes to neurological deficits depending on their size/location within the spinal canal. Here, we report a patient with a spinal subarachnoid cyst who suddenly developed paraparesis. Case Description: A 37-year-old female with a thoracic spinal arachnoid cyst at the T7 level suddenly developed lower abdominal pain followed by immediate paraparesis. Two weeks following the onset of symptoms, she underwent a T6-T8 laminectomy; this included with full cyst excision. By the 4th postoperative week, her signs/symptoms fully resolved. Conclusions: A 37-year-old female with a T7 thoracic spinal subarachnoid cyst who presented with acute paraparesis regained normal function 2 weeks following a T6-T8 laminectomy.

Subarachnoid-subarachnoid bypass for spinal adhesive arachnoiditis

The authors report a case of adhesive arachnoiditis (AA) and arachnoid cyst successfully treated by subarachnoid to subarachnoid bypass (S-S bypass). Arachnoid cysts or syringes sometimes compress the spinal cord and cause compressive myelopathy that requires surgical treatment. However, surgical treatment for AA is challenging. A 57-year-old woman developed leg pain and gait disturbance. A dorsal arachnoid cyst compressed the spinal cord at T7–9, the spinal cord was swollen, and a small syrinx was present at T9–10. An S-S bypass was performed from T6–7 to T11–12. The patient's gait disturbance resolved immediately after surgery. Two years later, a small arachnoid cyst developed. However, there was no neurological deterioration. The myelopathy associated with thoracic spinal AA, subarachnoid cyst, and syrinx improved after S-S bypass.