Congenital absence of the nasal septum in a Nigerian newborn with multiple congenital anomalies

2020 ◽  
Vol 13 (9) ◽  
pp. e235845
Author(s):  
Isa Abdulkadir ◽  
Sani Musa ◽  
Fatima Lami Abdullahi ◽  
Laila Hassan

Congenital absence of the nasal septum (hyporhynia) is infrequently reported in the literature. We report a rare case in a newborn with multiple congenital anomalies with the aim to highlight its rarity and compatibility with life in a resource-limited setting. The case notes of the child were summarised and the relevant literature reviewed to give the report a context. A 2-hour-old term baby boy presented with a history of abnormal facie characterised by a single nostril and noisy breathing. On examination, he had stridulous breathing, bilateral proptosis, sloping of the forehead, depressed nasal bridge absent nasal septum, absence of columella and hypoplastic mid-face, among other dysmorphic features. A diagnosis of hyporhynia in a baby with multiple congenital anomalies was made and managed accordingly. The baby was discharged to continue follow-up. Congenital absence of the nasal septum is rare and could present without respiratory distress and may be compatible with life.

2008 ◽  
Vol 123 (7) ◽  
pp. 789-792 ◽  
Author(s):  
T Galm ◽  
N Turner

AbstractObjective:We present the first reported case of primary carcinoid tumour of the nasal septum.Method:Case report of our experience of a carcinoid tumour of the nasal septum. We discuss our clinical, radiological and pathological findings.Result:An 83-year-old woman presented with a history of left-sided nasal blockage. Clinical examination showed a unilateral, left-sided nasal polyp. Further imaging and histological analysis confirmed this to be a carcinoid tumour. Carcinoid tumours outside the gastrointestinal tract are rare. There have been reports of carcinoid tumours in the head and neck region, but no published cases occurring in the nasal septum. Our management involved wide surgical resection with regular follow up to monitor for recurrence and for the development of carcinoid syndrome. Four years from initial presentation, the patient remained free of the primary tumour and had displayed no signs or symptoms suggestive of carcinoid syndrome.Conclusion:To the authors' best knowledge, and after searching the world literature, the presented case represents the first report of primary carcinoid tumour of the nasal septum. Despite its rarity, this tumour should be considered as part of the differential diagnosis, as timely recognition and intervention are critical for successful treatment.


PEDIATRICS ◽  
1986 ◽  
Vol 77 (5) ◽  
pp. 786-786
Author(s):  
LINDA L. WRIGHT ◽  
MARCIA F. SCHWARTZ ◽  
STUART SCHWARTZ ◽  
JAMES KARESH

To the Editor.— We report an unusual ocular finding associated with the chromosome lq deletion syndrome in a full-term black girl for whom there was no family history of congenital anomalies, fetal wastage, consanguinity, or drug ingestion. The infant was overtly microcephalic (third percentile) with a sloping forehead, metopic sutures open to the brow, and a large posterior fontanel. She had a low anterior hair line, depressed nasal bridge, bulbous nose, thin down-turned lips, prominent philtrum, malformed ears, and a webbed neck.


2020 ◽  
Vol 48 (9) ◽  
pp. 030006052094616
Author(s):  
Yongning Jiang ◽  
Xiangqin Zhou

Frontal lobe epilepsy is a common neurological disorder with a broad spectrum of symptoms. Frontal lobe epilepsy presenting with vertigo is extremely rare, and the relevant pathogenesis remains unclear. Herein, we report a case of frontal lobe epilepsy manifesting as vertigo, and we review the relevant literature. A 34-year-old woman presented with a 10-year history of general tonic–clonic seizures. In the month prior to admission, she experienced nocturnal seizures on two occasions. Video electroencephalogram monitoring showed frequent clinical seizures during which the patient felt transient vertigo. The ictal electroencephalogram revealed a medium-amplitude spike and slow wave complex originating from the frontal lobes. The patient was treated with oral sodium valproate, levetiracetam, and lamotrigine. After a 6-month follow-up period, her seizures were well controlled. Our findings expand the symptom spectrum of epilepsy, suggesting that vertigo can be an uncommon clinical manifestation of frontal lobe epilepsy. Although the pathological correlation between vertigo and epilepsy remains elusive, our findings indicate that vestibular cortical neurons may participate in periodic epileptiform discharges of the frontal lobe. Clinicians should be aware of a potential diagnosis of epilepsy in patients presenting with vertigo as the onset symptom because this condition is usually underdiagnosed.


2021 ◽  
Vol 108 (Supplement_6) ◽  
Author(s):  
M Mubarak ◽  
O Alhamdan ◽  
H Alaradi ◽  
S Alhindi

Abstract Introduction Horseshoe malformation is the most common form of fusion defects involving the kidney, whereas Wilm's tumor is the most common primary malignant renal tumor in children. The co-incidence of these two pathologies gives off an incidence rate of 0.48%. Case Report This is a case of a two-year-old female who presented early in life with multiple congenital anomalies including congenital heart disease, bilateral aniridia, persistent thrombocytopenia, and sickle cell trait in association with a painless abdominal mass. A CT scan showed a horseshoe kidney. The patient was lost for follow up until the age of two years, in which another CT scan revealed a left lower pole focal cystic mass measuring 5.1x5.3x6.3cm. WAGR syndrome was suspected and confirmed through genetic testing. A multidisciplinary approach was necessary to manage her efficiently due to the numerous co-existing congenital pathologies. The patient underwent six cycles of chemotherapy leading to a 35% reduction in tumor size and a left nephrectomy. She was admitted to the pediatric ICU post-operatively for observation. Histopathological analysis revealed features of stage two stromal type nephroblastoma. Her renal function and urine output were satisfactory throughout the duration of her admission as well as on follow up. Conclusions Keeping a high index of suspicion is imperative; individuals with renal anomalies, namely horseshoe kidney in the context of WAGR syndrome, mandate a comprehensive assessment through clinical examination, laboratory workup, and imaging. Though different approaches to standard Wilm's tumor cases have been explored thoroughly, it is crucial to keep in mind the need for multidisciplinary involvement in patients with multiple congenital anomalies.


2005 ◽  
Vol 84 (11) ◽  
pp. 720-722 ◽  
Author(s):  
Byoung J. Baek ◽  
Seong W. Kim ◽  
Hoon Park ◽  
Jin K. Park ◽  
Kyung Y. Han ◽  
...  

We report a rare case of extramedullary plasmacytoma of the nasal septum in a 65-year-old woman. She presented with a 2-month history of left-sided nasal obstruction and intermittent blood-tinged nasal crusting. Nasal endoscopy revealed that a dark-red mass had arisen from the nasal septum; no evidence of invasion to adjacent tissues was seen. A biopsy specimen was diagnosed as a plasmacytoma (kappa light chain—type). Serum and urine electrophoresis failed to detect any myeloma component or Bence Jones protein. All other screening tests to rule out multiple myeloma were negative. These findings confirmed the diagnosis of extramedullary plasmacytoma. The mass was completely removed via an endoscopic approach. No recurrence was noted at the 2-year follow-up.


2009 ◽  
Vol 16 (2) ◽  
pp. 262-267 ◽  
Author(s):  
HEATHER G. BELANGER ◽  
ERIC SPIEGEL ◽  
RODNEY D. VANDERPLOEG

AbstractDebate continues about the long-term neuropsychological impact of multiple mild traumatic brain injuries (MTBI). A meta-analysis of the relevant literature was conducted to determine the impact of having a history of more than one self-reported MTBI (versus just one MTBI) across seven cognitive domains, as well as symptom complaints. The analysis was based on 8 studies, all conducted with athletes, involving 614 cases of multiple MTBI and 926 control cases of a single MTBI. The overall effect of multiple MTBI on neuropsychological functioning was minimal and not significant (d = 0.06). However, follow-up analyses revealed that multiple self-reported MTBI was associated with poorer performance on measures of delayed memory and executive functioning. The implications and limitations of these findings are discussed. (JINS, 2010, 16, 262–267.)


1970 ◽  
Vol 30 (1) ◽  
pp. 57-59
Author(s):  
Needa Shrestha Shakya ◽  
Simmi Misra Gurubacharya ◽  
Dhana Raj Aryal

A term baby born to an epileptic mother who was treated with Phenytoin until 10weeks of pregnancy was born with multiple congenital anomalies and diagnosed to have Fetal Hydantoin Syndrome. Infants of mothers who have taken hydantoin during pregnancy have been found to have broad multisystem patterns of abnormalities, including mental retardation, craniofacial anomalies, nail and digital hypoplasia and prenatal onset of growth deficiency. The discussion aims to bring to attention the potential hazard of the use of hydantoin drug during reproductive age to all medical practitioners. Key words: Congenital anomalies, epilepsy, fetal hydantoin syndrome, phenytoin. DOI: 10.3126/jnps.v30i1.2463 Journal of Nepal Paediatric Society Vol.30(1) 2010 57-59


2022 ◽  
pp. 014556132110725
Author(s):  
Rui Lu ◽  
Xiong Chen ◽  
Shucheng Yin ◽  
Zhiyong Li

Lipomas of the palatine tonsil are rare benign neoplasms in clinical practice. We present a case of palatine tonsillar fibroangiolipoma in a 50-year-old Chinese male with a history of multiple lipomas on the back and extremities. It was diagnosed based on histological examination and integrated analysis. Good wound healing and no evidence of recurrence were noted within 6 months follow-up after tonsillectomy. This article also puts a spotlight on the differential diagnosis of benign tonsillar tumors and reviewed recent relevant literature.


2010 ◽  
Vol 5 (1) ◽  
pp. 80-84 ◽  
Author(s):  
Hemonta K. Dutta ◽  
Pradip Deori

Object Anterior encephaloceles are rare congenital malformations. Most of the cases in the literature are reported from Southeast Asia. In India it is seen more frequently among manual laborers in the tea gardens of Assam. A brief background of the patients, clinical presentation, operative treatment, and outcome are discussed, with a review of the relevant literature. The causes and pathogenesis of anterior encephaloceles are discussed. The authors‘ surgical approach to repair of the defect, postoperative complications, and results are described. Methods Twenty-eight patients (mean age 38 months, range 1 month–12 years) with anterior encephaloceles who presented between 1998 and 2007 are included in the study. Patients were assessed for physical and psychological growth and development; any associated anomalies were noted. A detailed history of the patient‘s family, including the prenatal history, was obtained. Lesions were classified with the help of neuroimaging studies (skull x-ray, CT, ultrasonography, and MR imaging studies) and confirmed at surgery. Results Sixteen patients had nasofrontal, 9 had nasoethmoidal, and 3 had nasoorbital encephaloceles, and 12 patients had associated hydrocephalus. The modes of presentation were nasofrontal swelling, watering from the eyes, CSF leakage, fever, and vomiting. Parents of all the patients were ethnic tea garden workers. The average parental age at the time of marriage was 24 years for men and 18 years for women. Consanguinity was present in 6 patients. Alcohol consumption and tobacco chewing were a common practice in both parents. A total of 42 surgical procedures were done in 16 patients, one of whom died of postoperative meningitis. The mean follow-up duration was 38 months (1–92 months). Conclusions Anterior encephaloceles are rare in Western countries and other states in India, but this defect is more commonly seen among the ethnic tea garden workers in Assam. Transcranial repair is the treatment of choice. Unlike encephaloceles in other locations, anterior encephaloceles have a better clinical outcome after surgery.


1970 ◽  
Vol 6 (1) ◽  
pp. 57-60
Author(s):  
Kiran Agarwal ◽  
Lata Agarwal ◽  
VK Agrawal ◽  
Ashok Agarwal

Meeting challenges regarding conjoined twinning and its Prenatal Diagnosis is depicted by three pairs of conjoint twins (all female) diagnosed by ultrasound. All the pairs belonged to Hindu family and there was no history of consanguineous marriage, previous twins in family, ingestion of drugs or exposure to X-ray. First pair of thoracopagus twins was diagnosed at 28 weeks gestation born to twenty two years old primigravida. Second pair of twin was Cephalo-thoracopagus born to twenty seven years old second gravida with a history of one incomplete abortion (two years back). Third pair of twin was craniopagus thoraco-ompalopagus born to twenty five years old second-gravida and parity one at fifteen weeks of gestation. Incidences of female conjoint twins are more common. Management of conjoint twin still remains a challenge to modern sciences due to multiple congenital anomalies although early and easy diagnosis of conjoint twin is possible because of the availability of ultrasonography. Keywords: Conjoined twins, prenatal diagnosis and challenges DOI: http://dx.doi.org/10.3126/njog.v6i1.5255 NJOG 2011; 6(1): 57-60


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