
Age 06 years, Myelodysplastic Syndrome with excess blasts (MDS-EB 2)
Aleena Shafiq
Contributed By: Dr. Tariq Ghafoor
Aleena first presented in March 2018 with generalized weakness and pallor. CBC showed anaemia (Hb5.4g/dl). With no response to iron supplements she was referred to AFBMTC in June 2018. BMA and trephine done at AFBMTC (25/7/18) revealed the diagnosis of Myelodysplastic Syndrome with excess blasts (MDS-EB 2). Repeat BMA and trephine biopsy on 8/1/19 showed 14% blasts. The case was discussed in departmental meeting and she was given low dose Cytarabine (20mg) for 2 weeks. Repeat BMA (11/03/19) showed 15% blasts. Case was discussed again in departmental meeting and it was decided to proceed with HSCT without further chemotherapy due to high TRM associated with further chemotherapy, accepting high risk of relapse post BMT.
Aleena was fully HLA matched with younger sister Hiba (4 yrs old). She underwent bone marrow transplantation on 27th March 2019. HSCT was complicated by febrile neutropenia, Mucositis, acute gut GVHD (stage II, grade 2) & acute skin GVHD (grade 1). She was discharged on 13th April 2019(day +17). At time of Discharge, Aleena had Grade 1 Skin GVHD and Gut GVHD was settled. Liver and spleen were 3cm palpable respective costal margins.
Aleena was admitted again on day +36 at AFBMTC. She was treated for Acute Gut GVHD, CMV enteritis, Thrombotic microangiopathy (TMA). Her GVHD was steroid refractory and she received 4 weekly doses of Infliximab
Lower GI endoscopy at PEMH, Rawalpindi on 9th May 2019 showed studded ulcers & multiple biopsies were taken which revealed acute gut GVHD & CMV infection on histopathology. Aleena also developed CSA induced TMA, Cyclosporine was switched with Oral MMF, and was further managed with Tranexamic acid, Vitamin-K & platelets transfusions. She was discharged after settling of GVHD and TMA.
Aleena was again admitted with fever and loose stools. She was managed with IV antibiotics, IV fluids, and probiotics. PCR for CMV-DNA in June 2019 revealed 122414 copies/ml. She was already on valganciclovir. Her condition improved and was discharged on 01/07/19.
Aleena came for OPD visit on 04/07/19 and developed generalized tonic clonic seizures with urinary incontinence, in day care. She was managed with Midazolam IV and started on Leveteracitam IV. On examination, her pupils were reactive, constricted, GCS of 14/15, moving all limbs but under midazolam effect plantar bilateral down going with no focal neurological deficit. Her fits settled for 2 days. On 6th July 2019 she again had multiple episodes of fits with up rolling of eyes, abnormal movements of right leg, twitching of face, carpopedal spasm, no response to commands followed by loss of consciousness. She had very severe electrolyte impairments; hypocalcaemia, hypomagnesemia, hypophosphatemia and hypokalaemia. She was given IV replacements of calcium, magnesium and potassium. She continued to have fits and Valproic acid IV was added and Levetiracetam was increased to maximum dose.
Considering her clinical condition and suspicion of viral encephalitis IV acyclovir was given from 06/07/19 to 08/97/19 and again from 12/07/19 to 14/07/19. Her MRI brain was reported as Mild cerebral and cerebellar atrophy, Right maxillary and ethmoid minimal sinusitis. EEG (16/07/19) showed spikes in right and left frontotemporal leads suggestion of underlying seizure activity. Considering high risk of autoimmune encephalitis IVIG was given on 12/07/19. And Acyclovir IV was given from 18/07/19 to 11/08/19 after decision in ward round.
Her fits settled on 5th august 2019 but left sided weakness persisted. Her IV antiepileptics were switched to oral on 7/08/19. At discharge she is fits free with improvement in left sided weakness.
Aleena developed multiple episodes of loose motions on 6/07/18. Considering her previous history of acute GUT GVHD with CMV enteritis. She was managed with IV fluids and was started on TPN because of not tolerating oral feeds. PCR for CMV DNA was advised which showed 92,000/copies. She was already on oral Valganciclovir and MMF. Colonoscopy on 23rd July 2019 showed superficial ulcers with lots of faecal matter denuded mucosa. Histopathology showed nonspecific inflammation, Negative for GVHD/CMV inclusions. She continued to have diarrhoea off and on after starting oral feeds. Her repeat CMV PCR on 15/07/19 showed 11,786/copies. Last PCR for CMV DNA on 16/08/19 showed 13,510/copies. Her loose stools settled on 19/08/19 and she was tolerating oral fluids. At discharge her GVHD and CMV enteritis settled and can tolerate oral feed.
Aleena again had fever spike on 8/08/19. Meropenem was restarted. She continued to have low grade fever and remained on Meropenem till 23/08/19. Her blood C/S revealed growth of Enterococcus Faecalis started on Teicoplanin on sensitivity bases. Aleena developed oral thrush on day+149 , and was managed with oral fluconazole .
Aleena had GUT GVHD with CMV enteritis and she lost 6 kg weight from baseline (21 to 15). She was managed with Total Parental nutrition, IV amino acids, Oral Vitamin-D, Vitamin –A and Zinc supplements.
Aleena had poor graft function with low blood counts and required multiple blood and platelets transfusions and GCSF administrations. Her BMA done on 29/06/19 showed hypocellular marrow. Overall cellularity was 10-15 %. At the time of discharge, Aleena is afebrile, free of fits, tolerating oral feeds.