scholarly journals Bilateral Congenital Absence of the Stapes Superstructure in Two Siblings

2014 ◽  
Vol 2014 ◽  
pp. 1-3
Author(s):  
Jose Ignacio Undabeitia ◽  
José Undabeitia ◽  
Laura Cianci ◽  
Luis Padilla ◽  
Eduardo Petreñas ◽  
...  

Middle ear ossicle malformations are an uncommon event. Among them, the congenital absence of the stapes is a very rare condition that is seldom described in the literature. We report the cases of two women, aged 19 and 22 , who presented with a long history of conductive deafness. An exploratory tympanotomy was performed and the absence of the stapes superstructure and an abnormal position of the facial nerve could be observed. A bone anchored hearing aid (BAHA) was implanted in both patients with good results. It is believed that stapes agenesis is related to an abnormal development of the facial nerve, which by the 5th to 6th week of gestation would interpose between the otic capsule and the stapes blastema, preventing these structures from contacting. A long history of nonprogressive hearing loss from birth or early childhood is the key to reach a diagnosis. Several treatment options have been described. The authors opted for a hearing aid due to the high risk of facial nerve lesion, with good functional results.

2021 ◽  
pp. 59-60
Author(s):  
Prabhmeet Singh ◽  
Purushottam Jangir ◽  
Priti Singh

BACKGROUND: Gender dysphoria is a rare condition, rarer in females and rarest in rural areas of India. From the surface case presented with depressive features, but inside the core diagnosis of gender dysphoria was met. The objective of index case is highlighting presentation of a female with stigmatizing condition and role of various available treatment options and utilization of services. Case presentation: A 20-year-old female from rural background demonstrating symptoms of low mood, easy fatiguability and ideas of selfharm from past few months with a long -standing history of distress and incongruence between experienced and assigned gender. According to DSM-5, diagnosis of gender dysphoria was made and further evaluated on Gender Identity/Gender Dysphoria Questionnaire for Adolescents and Adults (GIDYQ-AA) and Hamilton depression rating scale. SSRI was started along with supportive psychotherapy sessions and various treatment options for gender dysphoria discussed. DISCUSSION: This case illustrates importance of history taking which becomes paramount in case of rare disorders like gender dysphoria. Multi-level interventions at the individual, interpersonal, and structural levels to reduce stigma toward transgenders, better acceptability would lead to further clarify hypothesis and early diagnosis of the disorder.


Author(s):  
David J. Margolis ◽  
Akhil Bandi ◽  
Aman Upadhyay ◽  
S. Olga Yiantsos ◽  
Thomas J. Vajtay ◽  
...  

2020 ◽  
Vol 54 (7) ◽  
pp. 650-655
Author(s):  
Ali Ahmet Arıkan ◽  
Fatih Avni Bayraktar ◽  
Emre Selçuk

Atherosclerotic true aneurysms of the superficial femoral artery (SFA) and profunda femoris artery (PFA) are rare and difficult to detect. The synchronous presence of SFA and PFA aneurysms is even rarer. Herein, we present a case with ipsilateral true SFA and PFA aneurysms diagnosed with rupture. A review of the international literature is made, and the diagnosis and treatment options of this rare condition are discussed. A 75-year-old male was admitted to our hospital with an aneurysm on the distal SFA and the ipsilateral PFA, as well as a hematoma around the PFA. It was difficult to determine the source of the rupture before surgery, even with proper imaging. Successful ligation of the PFA and an aneurysmectomy followed by a bypass grafting for the SFA were performed. An intraoperative examination revealed that the SFA aneurysm had ruptured. In elderly males with a history of ectasia or aneurysm on the aorta or peripheral arteries, a synchronous aneurysm on the SFA or the PFA should be suspected.


2013 ◽  
Vol 04 (02) ◽  
pp. 213-215 ◽  
Author(s):  
Anurag Gupta ◽  
Suman S Karanth ◽  
A Raja

ABSTRACTInfratentorial subdural empyema is an extremely rare condition which unfortunately mimics pyogenic meningitis in 75% of cases. While an ill‑planned lumbar puncture in these cases may be fatal, an inadvertent delay in treatment may be detrimental to the outcome for the patient. We present a case of a young boy with long standing history of chronic suppurative otitis media (CSOM) presenting with an infratentorial empyema with features suggestive of pyogenic meningitis. We also review the available literature to further define the condition in terms of clinical features, treatment options, and outcome. A misdiagnosis of this condition with failure to institute appropriate surgical intervention and antibiotic therapy is potentially life threatening. We highlight this rare condition which requires a high degree of suspicion especially in the presence of associated risk factors.


2001 ◽  
Vol 110 (3) ◽  
pp. 257-262 ◽  
Author(s):  
Dominique Cazals-Hatem ◽  
Fabrice Lisovoski ◽  
Romain E. Kania ◽  
Didier Bouccara ◽  
Dominique Hénin ◽  
...  

Hypertrophic neuropathy is a peripheral nerve lesion that is histologically characterized by onion bulb formations around axons. This histologic picture, which is usually seen in generalized hypertrophic neuropathies, can occasionally be observed in single nerves as localized hypertrophic neuropathy. Cranial involvement of such localized hypertrophic neuropathy represents a very rare entity; only a few cases have been reported in the literature. We report the history of a progressive facial paralysis with a tumorous enlargement of the seventh cranial nerve that was clinically suspected of being a schwannoma. Pathological examination permitted the diagnosis of hypertrophic neuropathy.


HPB Surgery ◽  
1995 ◽  
Vol 8 (4) ◽  
pp. 253-255
Author(s):  
Constantinos Yiangou ◽  
Brian Shorey ◽  
Allan D. Spigelman

Congenital absence of the gall-bladder is a rare condition. It is sometimes associated with other congenital defects. We report here two cases of gall-bladder agenesis discovered at laparoscopy. Both had a history of skeletal and cardiovascular anomalies. The investigation of patients with absent gall-bladder can be very difficult. Ultrasound scanning is usually inconclusive and further noninvasive tests should be performed to establish the diagnosis and prevent an unnecessary operation. The presence of other congenital defects should alert the clinician to the possibility of gall-bladder agenesis.


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