MyMedR

The aim of this paper is to report three cases of congenital esophageal stenosis (CES) of different anatomical varieties: (1) stenosis due to tracheobronchial remnants (TBR) involving the lower third of the esophagus; (2) fibromuscular stenosis (FMS) of the middle third; and (3) a membranous diaphragm (MD) involving the lower third. The first two patients were treated by segmental resection of the esophagus and end-to-end anastomosis with dramatic relief of symptoms. The third responded to dilatation. CES is a rare lesion, and about 500 cases are reported in the literature. CES due to TBR and fibromuscular hypertrophy is considered a segmental stenosis, as it involves a length of the esophageal wall, whereas the MD consists of mucosal folds and does not involve its muscular layer. The clinical presentation is varied, and a high index of suspicion is essential to arrive at an early diagnosis. Management depends on the type and severity of the stenosis. Stenosis due to TBR requires segmental resection. FMS may respond to dilatation, but severe degrees of stenosis require segmental excision. MDs usually respond to dilatation or may require endoscopic excision. Segmental stenosis can occur as an isolated lesion or in association with esophageal atresia or stenosis due to a MD. Based on this observation, a classification of CES is proposed.

Matched MeSH terms: Esophageal Stenosis/congenital*

Fulltext Congenital hypothyroid screening using cord blood TSH

Wu LL, Sazali BS, Adeeb N, Khalid BA

Singapore Med J, 1999 Jan;40(1):23-6.

PMID: 10361481

Clinical diagnosis of congenital hypothyroidism (CH) is difficult at birth without neonatal screening. In line with the priorities of the national health services in Malaysia towards preventive medicine, early diagnosis and treatment of CH is emphasised. We conducted a pilot study at Kuala Lumpur's Maternity Hospital between April 1995 and November 1995 to estimate the incidence of CH and also evaluated the problems associated with large-scale neonatal screening using a commercial TSH kit on cord bloodspots.

Matched MeSH terms: Congenital Hypothyroidism*

Lung abscess: an unusual presentation of congenital tracheoesophageal fistula without atresia

Quah BS, Indudharan R, Hashim I, Simpson H

J Pediatr Surg, 1998 Dec;33(12):1817-9.

PMID: 9869060

Tracheoesophageal fistula (TEF) without atresia is rare and usually presents with symptoms from birth. In this report, a 9-year-old boy presented with productive cough of 4 month's duration and was shown to have a right lung abscess seen on chest radiograph. His parents denied earlier respiratory symptoms or illnesses. Rigid bronchoscopy showed a fistulous opening of about 1 mm in diameter in the posterior wall of the trachea about 16 cm from the upper incisor teeth. Cannulation with a ureteral catheter demonstrated that the fistulous opening communicated with the esophageal lumen. The tracheoesophageal fistula was 1 cm long and was divided through a right supraclavicular incision. The postoperative period was uneventful, and the patient was discharged on the third postoperative day. This case demonstrated that TEF should be considered in any patient presenting with chronic respiratory problems even after a prolonged symptom-free period.

Matched MeSH terms: Tracheoesophageal Fistula/congenital

Bochdalek diaphragmatic hernia presenting with acute gastric dilatation

Quah BS, Hashim I, Simpson H

J Pediatr Surg, 1999 Mar;34(3):512-4.

PMID: 10211672

Congenital diaphragmatic hernia through the foramen of Bochdalek may present after infancy. A 21/2-year-old Malay girl presented with acute respiratory distress. Chest examination showed reduced chest expansion and decreased breath sounds on the left side. Chest radiograph showed a large "cyst" in the left chest, which was thought to be a lung cyst under tension. Tube thoracostomy resulted in clinical improvement. Results of a barium study showed that the cyst perforated by the thoracostomy tube was the stomach, which had herniated through a Bochdalek diaphragmatic defect. Surgical repair of the diaphragmatic defect and closure of the perforated stomach was performed successfully. Congenital diaphragmatic hernia should be included in the differential diagnosis of respiratory distress in young children. Nasogastric tube placement must be considered as an early diagnostic or therapeutic intervention when the diagnosis is suspected.

Matched MeSH terms: Hernias, Diaphragmatic, Congenital*

Severe congenital rickets secondary to maternal hypovitaminosis D: a case report

Maiyegun SO, Malek AH, Devarajan LV, Dahniya MH

Ann Trop Paediatr, 2002 Jun;22(2):191-5.

PMID: 12070957

We report a full-term baby boy who presented soon after birth with severe congenital rickets. Maternal and neonatal vitamin D levels were very low and the infant responded well to oral vitamin D. Transient secondary hyperparathyroidism normalised on treatment. The mother's vitamin D deficiency was attributed to the region's cultural dress code which prevents exposure to sunlight. There has not been a previous report of severe congenital rickets from this region.

Matched MeSH terms: Rickets/congenital*

Umbilical evagination of the bladder with omphalocele minor

Thambi Dorai CR

Pediatr Surg Int, 2000;16(1-2):128-9.

PMID: 10663861

A neonate with umbilical evagination of the bladder (UEB) and omphalocele minor (OM) is reported. The findings in this case support the origin of the urachus from the upper end of the cloaca rather than the allantois. The frequent occurrence of OM with urachal anomalies, including UEB, suggests an embryological association between the two conditions.

Matched MeSH terms: Urinary Bladder Fistula/congenital

Fulltext Tibia vara in Asians: Myth or fact? Verification with three-dimensional computed tomography

Ho JPY, Merican AM, Ayob KA, Sulaiman SH, Hashim MS

J Orthop Surg (Hong Kong), 2021 2 27;29(1):2309499021992618.

PMID: 33632009 DOI: 10.1177/2309499021992618

BACKGROUND: There is a common perception among surgeons that Asian tibiae are significantly more varus compared to non-Asians, contributed both by an acute medial tibial proximal angle (MPTA) and diaphyseal bowing. Insight into the normative morphology of the tibia allows generation of knowledge towards disease processes and subsequently planning for corrective surgeries.

METHODS: Computed tomography (CT) scans of 100 normal adult knees, aged 18 years and above, were analysed using a 3-dimensional (3D) analysis software. All tibiae were first aligned to a standard frame of reference and then rotationally aligned to the tibial centroid axis (TCAx) and the transmalleolar axis (tmAx). MPTA was measured from best-fit planes on the surface of the proximal tibia for each rotational alignment. Diaphyseal bowing was assessed by dividing the shaft to three equal portions and establishing the angle between the proximal and distal segments.

RESULTS: The mean MPTA was 87.0° ± 2.2° (mean ± SD) when rotationally aligned to TCAx and 91.6° ± 2.7° when aligned to tmAx. The mean diaphyseal bowing was 0.1° ± 1.9° varus when rotationally aligned to TCAx and 0.3° ± 1.6° valgus when aligned to tmAx. The mean difference when the MPTA was measured with two different rotational alignments (TCAx and tmAx) was 4.6° ± 2.3°. No statistically significant differences were observed between males and females. Post hoc tests revealed statistically significant difference in MPTA between different ethnic sub-groups.

CONCLUSION: The morphology of the proximal tibiae in the disease-free Asian knee is inherently varus but not more so than other reported populations. The varus profile is contributed by the MPTA, with negligible diaphyseal bowing. These implications are relevant to surgical planning and prosthesis design.

Matched MeSH terms: Osteochondrosis/congenital*

Fulltext Gastric duplication cyst with a red flag presentation: a case report

Alagoo D, Sellappan H, Jayasilan J, Azizan N, Hayati F

Pan Afr Med J, 2021;39:141.

PMID: 34527157 DOI: 10.11604/pamj.2021.39.141.29895

Gastric duplication cyst (GDC) is a rare congenital malformation of the gastrointestinal (GI) tract. Despite being benign in the entity, its complications vary from an asymptomatic abdominal mass to fulminant or massive GI bleeding. A 28-year-old lady presented with unexplained GI haemorrhage, in which the upper endoscopy showed a classic feature of GI stromal tumour. The preoperative diagnosis was also confirmed by the computed tomography. She subsequently underwent surgical resection and the final histopathology was consistent with a benign entity of GDC.

Matched MeSH terms: Cysts/congenital

Kinematic comparison of the wrist movements that are possible with a biomechatronics wrist prosthesis and a body-powered prosthesis: a preliminary study

Abd Razak NA, Abu Osman NA, Wan Abas WA

Disabil Rehabil Assist Technol, 2013 May;8(3):255-60.

PMID: 22830946 DOI: 10.3109/17483107.2012.704654

This study examined the kinematic differences between a body-powered prosthesis and a biomechatronics prosthesis as a transradial amputee performed activities that involve flexion/extension and supination/pronation of the wrist.

Matched MeSH terms: Upper Extremity Deformities, Congenital/rehabilitation*

Fulltext Midgut malrotation with congenital peritoneal band: a rare cause of small bowel obstruction in adulthood

Low SF, Ngiu CS, Sridharan R, Lee YL

BMJ Case Rep, 2014;2014.

PMID: 24717859 DOI: 10.1136/bcr-2013-202690

Midgut malrotation commonly presents in the neonatal period, and rarely manifests its symptoms in adulthood with an estimated incidence of 0.2-0.5%. Nevertheless, the symptoms are non-specific with no strong pointers towards the clinical diagnosis. Consequently, the diagnosis is usually disclosed with imaging or surgery. We report a case of small bowel obstruction secondary to a congenital peritoneal band with underlying midgut malrotation in a 48-year-old man.

Matched MeSH terms: Intestinal Volvulus/congenital

Rare anatomical variant: arterial circle in palm and at the base of the thumb

Vollala VR, Nagabhooshana S, Bhat SM, Rodrigues V, Rao M, Pamidi N, et al.

Rom J Morphol Embryol, 2008;49(4):585-7.

PMID: 19050813

In this article, we describe anomalous formation, distribution of superficial palmar arch and an arterial circle at the base of the thumb found during routine dissection classes in the right hand of a 45-year-old male cadaver. These variations are unique and provide significant information to surgeons dissecting the hand region.

Matched MeSH terms: Peripheral Vascular Diseases/congenital

Fulltext Congenital hepatic fibrosis in a child with autosomal dominant polycystic kidney disease

Kanaheswari Y, Hamzaini AH, Wong SW

Med J Malaysia, 2008 Aug;63(3):251-3.

PMID: 19248702 MyJurnal

The association of congenital hepatic fibrosis (CHF) with autosomal recessive polycystic kidney disease (ARPKD) is well known and occurs in approximately 50% of cases. However the association of CHF with autosomal dominant polycystic kidney disease (ADPKD) is less well known and less well documented. We report a child with neonatal onset of hypertension due to ADPKD who later develops portal hypertension due to CHF in childhood. A review of this rare association follows.

Matched MeSH terms: Liver Cirrhosis/congenital*

Fulltext Functioning adrenal adenoma in association with congenital adrenal hyperplasia

Rohana AG, Ming W, Norlela S, Norazmi MK

Med J Malaysia, 2007 Jun;62(2):158-9.

PMID: 18705452 MyJurnal

We report a case of a young hypertensive male who was first seen in 1998 with a right thalamic haemorrhage and uncontrolled hypertension. CT abdomen showed a right adrenal tumour and a hyperplastic left adrenal gland. Laparoscopic adrenalectomy performed followed by histopathological examination confirmed the diagnosis of adrenal adenoma. He subsequently presented to us again a year later with persistent hyperkalaemia and asymptomatic hyponatraemia. Further investigations strongly suggested the presence of isolated mineralocorticoid deficiency with normal cortisol levels. This was confirmed to be due to partial or late-onset congenital adrenal hyperplasia (CAH). We discuss the association of partial CAH and adrenal tumours and the unmasking of the mineralocorticoid deficiency following adrenalectomy.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/complications*

Fulltext Congenital cholesteatoma: delayed diagnosis and its consequences

Goh BS, Faizah AR, Salina H, Asma A, Saim L

Med J Malaysia, 2010 Sep;65(3):196-8.

PMID: 21939167

This is a retrospective review of congenital cholesteatoma cases that were managed surgically. There were 5 cases. The age of presentation ranged from 5 to 18 year old. Three patients presented with complication of the disease. Three patients had intact tympanic membrane, two had perforation at the anterior superior quadrant. All patients had cholesteatoma medial to tympanic membrane. Four cases had extensive ossicular erosion with preoperative hearing worse than 40 dB. Four cases underwent canal wall down mastoid surgery and one underwent canal wall up surgery. One patient had recurrence which required revision surgery. In conclusion, congenital cholesteatoma presented late due to the silent nature of disease in its early stage. Extensive disease, ossicular destruction with risk of complication at presentation were marked in our study. Hence, more aggressive surgical intervention is recommended in the management of congenital cholesteatoma.

Matched MeSH terms: Cholesteatoma, Middle Ear/congenital*

The anomalous origin and branches of the obturator artery with its clinical implications

Jusoh AR, Abd Rahman N, Abd Latiff A, Othman F, Das S, Abd Ghafar N, et al.

Rom J Morphol Embryol, 2010;51(1):163-6.

PMID: 20191138

The obturator artery (OA) originates from the internal iliac artery. Variation in the origin of the OA may be asymptomatic in individuals and occasionally be detected during routine cadaveric dissections or autopsies. In the present study, we observed the origin and the branching pattern of the OA on 34 lower limbs (17 right sides and 17 left sides) irrespective of sex. The bifurcation of the common iliac artery into internal and external iliac from the sacral ala varied between 4.3-5.3 cm. The distance of the origin of the anterior division of internal iliac artery from the bifurcation of common iliac artery varied between 1-6 cm. The distance of the origin of the posterior division of the internal iliac artery from the point of bifurcation of the common iliac artery varied between 0-6 cm. Out of 34 lower limbs studied, two specimens (5.8%) showed anomalous origin of the OA originating from the posterior division of the internal iliac artery. Of these two, one limb belonged to the right side while the other was from the left side. The anomalous OA gave off an inferior vesical branch to the prostate in both the specimens. No other associated anomalies regarding the origin or branching pattern of the OA were observed. Prior knowledge of the anatomical variations may be beneficial for vascular surgeons ligating the internal iliac artery or its branches and the radiologists interpreting angiograms of the pelvic region.

Matched MeSH terms: Peripheral Vascular Diseases/congenital

Fulltext Malignant myeloid transformation in a child with severe congenital neutropenia (Kostmann's syndrome)

Chong LA, Josephine P, Ariffin H

Med J Malaysia, 2006 Jun;61(2):236-8.

PMID: 16898320 MyJurnal

We report a case of a child with severe congenital neutropenia (Kostmann's syndrome) who was treated with daily prophylactic subcutaneous granulocyte colony-stimulating factor (G-CSF) from the age of eight to sixteen years before being discontinued for poor haematological and clinical response. She did not have a HLA-matched sibling to enable bone marrow transplantation. She subsequently developed acute megakaryoblastic leukemia at the age of 17 years and succumbed during induction chemotherapy. The role of G-CSF in the pathogenesis of her malignant transformation to AML is complicated as this disorder has a propensity for myelodysplasia or AML as part of its natural history.

Matched MeSH terms: Neutropenia/congenital*

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