Lung hypoplasia and patellar agenesis in Ehlers-Danlos syndrome

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Singapore Med J 2009; 50(12): e415-e418
Lung hypoplasia and patellar agenesis in Ehlers-Danlos syndrome

Pradhan P, Deb J, Deb R, Chakrabarti S
Correspondence: Dr Parthapratim Pradhan, parthapratimpradhan@gmail.com

ABSTRACT
A 22-year-old male patient was admitted with severe cough associated with purulent expectoration, left-sided chest pain and breathlessness. There was a history of recurrent respiratory ailments since childhood. The patient appeared younger than his chronological age. His face and ears were both dysmorphic. Clinically, the patient was diagnosed with Ehlers-Danlos syndrome (EDS). Computed tomography of the thoracic region revealed hypoplasia of the left lung and hyperplasia of the right lung. Both the patellae were absent. However, ultrasonography of his abdomen, echocardiography and other routine blood and urine examination showed no gross abnormalities. Although other respiratory tract abnormalities with EDS are not uncommon, unilateral lung hypoplasia and patellar agenesis in EDS make this case unique. 

Keywords: Ehlers-Danlos syndrome, lung hypoplasia, patellar agenesis
Singapore Med J 2009; 50(12): e415-e418

Ileal perforation in segmental intestinal dilatation associated with omphalocoele

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Singapore Med J 2009; 50(12): e412-e414
Ileal perforation in segmental intestinal dilatation associated with omphalocoele

Thambidorai CR, Arief H, Noor Afidah MS
Correspondence: Prof CR Thambidorai, thambidorai@gmail.com

ABSTRACT
Localised dilatation of a segment of the intestine without any macroscopically-identifiable cause is rare, and has been reported in association with omphalocoele in only 14 children up to 2006. In most of these cases, the segmental intestinal dilatation (SID) was either diagnosed incidentally, or due to presentation with partial or complete intestinal obstruction. We report, for the first time, a 37-week-old neonate with bowel perforation in SI D associated with omphalocoele. In our case, a long thin vessel that resembled the mesodiverticular vessel of a Meckel’s diverticulum was present in the dilated segment, supporting the view that SID and Meckel’s diverticulum may be embryologically related.

Keywords: bowel perforation, Meckel’s diverticulum, omphalocoele, segmental intestinal dilatation
Singapore Med J 2009; 50(12): e412-e414

Spontaneous urinary bladder rupture: a rare differential for lower abdominal pain in a female patient

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Singapore Med J 2009; 50(12): e410-e411
Spontaneous urinary bladder rupture: a rare differential for lower abdominal pain in a female patient

Saleem MA, Mahmoud AM, Gopinath BR
Correspondence: Dr Muhammad Ahsan, ahsan.saleem@nth.nhs.uk

ABSTRACT
We report a rare case of spontaneous “idiopathic” rupture of the urinary bladder in a 38-year-old previously-fit and -well woman, who presented with symptoms of severe lower abdominal pain. Computed tomography of the abdomen and pelvis indicated the preliminary findings, but the final diagnosis was confirmed only at laparoscopy. The bladder was repaired. The postoperative cystogram showed excellent healing of the bladder, with no further intra-abdominal urinary leakage.

Keywords: bladder rupture, laparoscopy, spontaneous bladder rupture, urinary bladder
Singapore Med J 2009; 50(12): e410-e411

Breast and ovarian recurrence of acute lymphoblastic leukaemia after allogeneic peripheral blood haematopoietic stem cell transplantation

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Singapore Med J 2009; 50(12): e407-e409
Breast and ovarian recurrence of acute lymphoblastic leukaemia after allogeneic peripheral blood haematopoietic stem cell transplantation

Fadilah SAW, Goh KY
Correspondence: Prof S Fadilah Abdul Wahid, sfadilah@ppukm.ukm.my 

ABSTRACT
Breast recurrence of acute lymphoblastic leukaemia (ALL) after stem cell transplant is uncommon, with less than 20 reported cases in the literature. In the majority of cases, the lesions developed without simultaneous involvement of other sites or graft-versus-host disease (GvHD).  We describe the f irst case of simultaneous bilateral breast and ovarian relapses after allografting in ALL, occurring in an 18-year-old female Chinese patient while she was having oral and hepatic chronic GvHD, persistent haematological remission and donor haematopoiesis. She received radiotherapy and chemotherapy, which resulted in resolution of the breast and ovarian lesions, and  remained diseasefree ten months after the onset of the relapse. This case suggests that there may be different mechanisms for bone marrow vs. extramedullary relapses and a complex relationship between GvHD and graft-versus-leukaemia.

Keywords: acute lymphoblastic leukaemia, allogeneic peripheral blood haematopoietic stem cell transplantation, breast leukaemia relapse, graft-versus-host disease, ovarian leukaemia relapse
Singapore Med J 2009; 50(12): e407-e409

Thyroglossal duct carcinoma

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Singapore Med J 2009; 50(12): e404-e406
Thyroglossal duct carcinoma

Kahairi A, Ahmad RL, Wan Islah L, Hasmah H
Correspondence: Dr Kahairi Abdullah, kahairiabd@yahoo.com.my

ABSTRACT
We report a 56-year-old Malay woman with a tumour that involved the skin and caused hyoid bone erosion. There was no clinical or radiological evidence of regional lymph node involvement. A modified radical neck dissection with preservation of the accessory nerve and internal jugular vein was performed, followed by an “extended” Sistrunk operation. The surgical defect was reconstructed with a pectoralis major myocutaneous flap. Our literature review showed that this is the first reported thyroglossal duct carcinoma which involved the skin and required a pedicle flap reconstruction.

Keywords: hyoid bone lesion, thyroglossal duct carcinoma, thyroid gland carcinoma, thyroidectomy
Singapore Med J 2009; 50(12): e404-e406

Waardenburg syndrome associated with laryngomalacia

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Singapore Med J 2009; 50(12): e401-e403
Waardenburg syndrome associated with laryngomalacia

Thapa R, Mallick D, Ghosh A, Ghosh A
Correspondence: Dr Rajoo Thapa, rajoothapa@yahoo.co.in 

ABSTRACT
Waardenburg syndrome ( WS) is a rare autosomal dominant condition characterised by sensorineural hearing loss, in conjunction with pigmentary abnormalities and defects of the neural crest-derived tissues. Depending on the additional phenotypic characteristics, WS is classified into four types, viz. WS1, WS2, WS3 and WS4. We report a 45-day-old male infant with WS1, who presented with inspiratory stridor associated with difficulty in respiration. Direct flexible laryngoscopic examination during evaluation confirmed laryngomalacia as the cause of the symptoms. The baby was managed conservatively and was discharged with appropriate advice to the mother, including the need for evaluation at regular intervals. There was gradual improvement in his symptoms, and by one year of age, he was completely symptomfree. To our knowledge, laryngomalacia as a part of WS, has not been documented to date in the English literature. We also briefly discussed the probable embryological basis for the observed association.


Keywords: hearing loss, lar yngomalacia , respiratory distress, Waardenburg syndrome
Singapore Med J 2009; 50(12): e401-e403

Scrotal pyoderma gangrenosum associated with Crohn's disease

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Singapore Med J 2009; 50(12): e397-e400
Scrotal pyoderma gangrenosum associated with Crohn's disease

Ho SA, Tan WP, Tan AW, Wong SN, Chua SH
Correspondence: Dr Sue-Ann Ho, dechild@gmail.com

ABSTRACT
Scrotal pyoderma gangrenosum is uncommon. We present a 17-year-old Chinese male patient with newly diagnosed Crohn’s disease presenting with scrotal pyoderma gangrenosum. Biopsy and other investigations were done to diagnose and look for associated diseases of pyoderma gangrenosum. Treatment with high-dose prednisolone failed. Subsequent treatment with oral cyclosporine was successful. 

Keywords: Crohn’s disease, cyclosporine, infliximab, scrotal pyoderma gangrenosum
Singapore Med J 2009; 50(12): e397-e400

Eggerthella lenta as a cause of anaerobic spondylodiscitis

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Singapore Med J 2009; 50(12): e393-e396
Eggerthella lenta as a cause of anaerobic spondylodiscitis

Bok CW, Ng YS
Correspondence: Dr Bok Chek Wai, bok.chek.wai@sgh.com.sg 

ABSTRACT
Anaerobic organisms are a rare cause of spondylodiscitis.  Egger t hella lenta is an organism that is not commonly associated with spondylodiscitis. We describe a case of spondylodiscitis due to Eggerthella lenta in an 82-year-old Chinese woman presenting with back pain. The organism was isolated from tissue cultures obtained via radiology-guided biopsy.

Keywords: anaerobic bacteria , anaerobic spondylodiscitis, back pain, discitis, Eggerthella lenta, spondylodiscitis
Singapore Med J 2009; 50(12): e393-e396