scholarly journals Airway Challenges in Sanjad-Sakati Syndrome (SSS): A Case Report and Review of Literature

2021 ◽  
pp. 1-3
Author(s):  
Mohamed A. Khalil ◽  
Mohamed A. Khalil ◽  
Alaa M. Khidr ◽  
Talal M. Alghamdi ◽  
Najeebah A. Al Elk

Sanjad-Sakati Syndrome (SSS) is a rare syndrome, discovered in Saudi Arabia in 1988. This syndrome is characterized by congenital hypoparathyroidism, severe growth retardation, dysmorphic features, mild to severe mental retardation as well as recurrent chest infections. We presented an eight-year-girl with SSS, with severe growth retardation, mental retardation, resolution of recent chest infection together with a history of bronchial asthma, dysmorphic features, limited mouth opening, micrognathia as well as high susceptibility to difficult intubation. The objective of this case report is to present the successful anaesthetic management of a rare genetic endocrinal syndrome.

2020 ◽  
Vol 47 (2) ◽  
pp. 163-169
Author(s):  
Geetanjali Sharma ◽  
Mohammad Shorafa ◽  
Gurdeep Hans

Osteochondroma of the condyle is a rare, slow-growing, benign tumour of the temporomandibular joint that can result in facial asymmetry, limited mouth opening, temporomandibular joint dysfunction and malocclusion. The large majority of osteochondromas occur at the distal metaphysis of the femur and the proximal metaphysis of the tibia, whereas only 0.6% of osteochondromas have been reported as occurring in the craniofacial region. We discuss the diagnosis and treatment of a 56-year-old fit and well male patient who presented to the Orthodontic Department at Wexham Park Hospital with a four-year history of progressive facial asymmetry and functional concerns, owing to a rare osteochondroma of the condyle.


2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.


2021 ◽  
Vol 3 (5) ◽  
pp. 1227-1232
Author(s):  
Lucas Maia Nogueira ◽  
Isabela Wolf Grotto ◽  
Samuel de Souza Moraes ◽  
Fabio Ricardo Loureiro Sato ◽  
Érica Cristina Marchiori

2014 ◽  
Vol 2014 ◽  
pp. 1-4
Author(s):  
Qingfu Zhang ◽  
Wei Jiang ◽  
Quanhong Zhou ◽  
Guangyan Wang ◽  
Linlin Zhao

Paraplegia is a rare postoperative complication. We present a case of acute paraplegia after elective gastrectomy surgery because of cervical disc herniation. The 73-year-old man has the medical history of cervical spondylitis with only symptom of temporary pain in neck and shoulder. Although the patient’s neck was cautiously preserved by using the Discopo, an acute paraplegia emerged at about 10 hours after the operation. Severe compression of the spinal cord by herniation of the C4-C5 cervical disc was diagnosed and emergency surgical decompression was performed immediately. Unfortunately the patient showed limited improvement in neurologic deficits even after 11 months.


1970 ◽  
Vol 13 (1) ◽  
pp. 12-15
Author(s):  
Vinita Girish Rao ◽  
Gunjan Abhijit Deshpande ◽  
Girish Shiva Rao ◽  
Pooja G Rehman

Seckel syndrome is an extremely rare inherited disorder characterised by severe growth retardation in utero, which continues later in life, resulting in short stature. Seckel syndrome presents as microcephaly, mental retardation, and a beak-like nose. This report describes a patient with Seckel syndrome who had bilateral cataract and underwent uneventful small incision cataract surgery in both eyes. The association of cataract with Seckel syndrome has not been described in the literature to the best of the authors’ knowledge.


2019 ◽  
Vol 53 (6) ◽  
Author(s):  
Michael Josef Kridanto Kamadjaja ◽  
Fatty Nada Pertiwi

It is difficult to make impression and fabricate conventional dentures for patients with microstomia and flat ridge. This is a case report of 53-year-old female with limited mouth opening (25 mm) who had been wearing denture for 7 years and which was recently broken. Close mouth with suction impression method was used. Proper diagnosis and appropriate set of procedures and methods were needed for this patient. The conventional complete denture fitted with closed mouth method for this condition resulted in retentive and stable denture which was inserted and removed easily.


2021 ◽  
Vol 14 (8) ◽  
pp. e241613
Author(s):  
Vaishnavi Divya Nagarajan ◽  
Asha Shenoi ◽  
Lucy Burgess ◽  
Vlad C Radulescu

An 18-year-old man with a history of type 3 von Willebrand disease (VWD) presented with a spontaneous pyohaemothorax. Type 3 VWD may present with both mucocutaneous and deep-seated bleeds, such as visceral haemorrhages, intracranial bleeds and haemarthrosis. There have been very few cases described in children of spontaneous pyohaemothorax. Management of this patient was challenging due to risks of bleeding following surgical drainage, requiring constant replacement with von Willebrand factor concentrate, while monitoring factor VIII levels to balance the risks of thrombosis.


2007 ◽  
Vol 48 (4) ◽  
pp. 193-197 ◽  
Author(s):  
Hakubun Yonezu ◽  
Mamoru Wakoh ◽  
Takamichi Otonari ◽  
Tsukasa Sano ◽  
Sadamitsu Hashimoto ◽  
...  

Author(s):  
Hitesh Verma ◽  
Arjun Dass ◽  
Surinder K. Singhal ◽  
Nitin Gupta

<p class="abstract">We had a sixty years old male patient, who had one year history of foreign body sensation in throat and the history of odynophagia for the last ten days. The NCCT neck showed 3.08×2.28 cm homogenous calcified mass in left tonsillar fossa. The stone was removed and tonsillectomy was performed. Giant tonsillolith is a rare clinical entity. As per available literature, 54 cases of giant tonsilloliths have been reported and to the best of our knowledge, this is one of the largest tonsillolith in the world till date. </p><strong>Keywords:</strong> Tonsillolith, Oral cavity<strong></strong>


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