Intestinal pseudo-obstruction in a patient with Kleefstra syndrome

Aim: To present a case of intestinal pseudo-obstruction in a paediatric patient with Kleefstra syndrome type 1 as a new clinical feature of this rare genetic disorder. Case report: A seven-year-old patient was admitted to the emergency department for nausea and vomiting. Clinical examination showed distended, meteoristic abdomen without detectable peristaltic sound. Abdominal X-ray revealed air-fluid levels and possible right subdiaphragmatic air collection. An urgent exploratory laparotomy was indicated. Intraoperatively, extremely dilated loops of small and large intestine up to the distal sigmoid colon were noted. No anatomical or mechanical causes of obstruction were found. The postoperative course was complicated by dysfunctional intestinal motility and urinary catheter-related infection which required prokinetics and intravenous antibiotic therapy. The patient was transferred to a paediatric centre specialized in intestinal motility disorders for further treatment. Conclusion: This is the first case of intestinal pseudo-obstruction described as a part of clinical presentation of Kleefstra syndrome type 1. Further research and re-evaluation of patients with KS1 is needed to determine if intestinal pseudo-obstruction is a new clinical manifestation depending on the size of the deletion or a repercussion of hypotonia sequential to an underlying syndrome.

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Rare case of unilateral hypertrophy of left lamina and spinous process of C6 with associated C2-C3 block vertebra: A case report

IP International Journal of Maxillofacial Imaging ◽

10.18231/j.ijmi.2021.016 ◽

2021 ◽

Vol 7 (2) ◽

pp. 83-86

Author(s):

Monika Sharma ◽

Deepak Sharma

Keyword(s):

Congenital Anomaly ◽

Case Report ◽

Rare Case ◽

Spinous Process ◽

Syndrome Type ◽

Thoracic Inlet ◽

Cervical Mass ◽

First Case ◽

Spinous Processes

We report a rare case of congenital cervical anomaly in a 32 yr old female, who was referred in our department for the complaints of chronic cervical and shoulder pain with a hard cervical mass. Antero-posterior and lateral radiographs of the cervical spine were performed, which show a rib like bony projection, in the left side of neck and on the lateral radiograph, it was corresponding to a hypertrophied C6 spinous process. CT study was done for better delineation of this congenital anomaly, which showed hypertrophied left lamina of C6 and spinous process, crossing midline and towards the left side, extending inferiorly up to the level of thoracic inlet. There was associated fusion of C3 and C4 vertebrae, resulting in block vertebra (Klippel- Feil syndrome Type 1) and unfused spinous process of C6 vertebra.This case report is the first case, where hypertrophied lamina and spinous process of C6 with unfused spinous processes and block vertebra, congenital cervical anomalies were seen in the same patient.

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Late diagnosis of chronic hypocalcemia due to autoimmune hypoparathyroidism

BMJ Case Reports ◽

10.1136/bcr-2021-243299 ◽

2021 ◽

Vol 14 (6) ◽

pp. e243299

Author(s):

Maxime Teisseyre ◽

Olivier Moranne ◽

Sophie Renaud

Keyword(s):

Calcium Supplementation ◽

Genetic Disorder ◽

Syndrome Type ◽

Calcium Sensing Receptor ◽

Basal Ganglia Calcification ◽

Muscle Cramps ◽

Oral Supplementation ◽

Calcium Sensing ◽

Autoimmune Polyendocrine Syndrome

Hypoparathyroidism is most often the result of postsurgical damage to the parathyroid glands but may occasionally be autoimmune hypoparathyroidism. In the latter context, activating antibodies directed against the calcium‐sensing receptor (CaSR) have been described. We hereby present the case of a patient suffering from chronic recurrent muscle cramps and paresthesia, presenting for a seizure due to hypocalcaemia. After eliminating the possibility of a genetic disorder, we searched for autoimmune hypoparathyroidism as there was no obvious cause of hypoparathyroidism. The search for anti-CaSR antibodies was positive. There was no argument for autoimmune polyendocrine syndrome type 1 so we concluded that it was isolated autoimmune hypoparathyroidism caused by activating antibodies to the CaSR. The patient was treated with vitamin D and calcium supplementation. The search for complications of hypoparathyroidism and hypercalciuria revealed basal ganglia calcification. The patient’s hypocalcaemia is now being kept under control with oral supplementation.

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Clinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2021.104289 ◽

2021 ◽

pp. 104289

Author(s):

Qinrong Huang ◽

Hui Xiong ◽

Zhe Tao ◽

FeiFei Yue ◽

Nong Xiao

Keyword(s):

Chinese Patients ◽

Syndrome Type ◽

Clinical Phenotypes ◽

Kleefstra Syndrome

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Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families

The Cleft Palate-Craniofacial Journal ◽

10.1177/1055665620902880 ◽

2020 ◽

Vol 57 (5) ◽

pp. 606-615

Author(s):

Sara Faily ◽

Rahat Perveen ◽

Kate Chandler ◽

Jill Clayton-Smith

Keyword(s):

Genetic Variants ◽

Clinical Phenotype ◽

Genetic Disorder ◽

Molecular Diagnostic ◽

Comparative Genomic ◽

Syndrome Type ◽

Loss Of Function ◽

Renal Anomalies ◽

Whole Exome

Objective: Oral-facial-digital syndrome type 1 (OFD1) [OMIM 311200] is a rare genetic disorder associated with congenital anomalies of the oral cavity, face, and digits. This condition is associated with mutations in the OFD1 gene. Our objective was to recruit patients with the OFD1 clinical phenotype without genetic confirmation, aiming to identify genetic variants in the OFD1 gene. Design: Three patients from 2 unrelated families were recruited into our study. We employed a variety of genomic techniques on these patients, including candidate gene analysis, array comparative genomic hybridization, whole-exome sequencing, and whole-genome sequencing. Results: We investigated 3 affected patients from 2 unrelated families with a clinical diagnosis of OFD1. We discovered a novel pathogenic dominant missense mutation c.635G>C (p.Arg212Pro) in the OFD1 gene in one family. A novel frameshift, loss-of-function mutation c.306delA (p.Glu103LysfsTer42) was detected in the affected patient in the second family. Conclusions: These new genetic variants will add to the spectrum of known OFD1 mutations associated with the OFD1 disorder. Our study also confirms the variable phenotypic presentation of OFD1 and its well-recognized association with central nervous system malformations and renal anomalies. Molecular diagnostic confirmation achieved in these families will have positive implications for their medical management.

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Deep brain stimulation for the obsessive-compulsive and Tourette-like symptoms of Kleefstra syndrome

Neurosurgical FOCUS ◽

10.3171/2015.3.focus1528 ◽

2015 ◽

Vol 38 (6) ◽

pp. E12 ◽

Cited By ~ 5

Author(s):

David J. Segar ◽

Yosef G. Chodakiewitz ◽

Radmehr Torabi ◽

G. Rees Cosgrove

Keyword(s):

Deep Brain Stimulation ◽

Brain Stimulation ◽

Genetic Disorder ◽

Neuropsychiatric Symptoms ◽

Autism Spectrum ◽

Obsessive Compulsive ◽

Compulsive Disorder ◽

First Case ◽

Kleefstra Syndrome ◽

Deep Brain

Deep brain stimulation (DBS) has been reported to have beneficial effects in severe, treatment-refractory cases of obsessive-compulsive disorder (OCD) and Tourette syndrome (TS). In this report, the authors present the first case in which DBS was used to treat the neuropsychiatric symptoms of Kleefstra syndrome, a rare genetic disorder characterized by childhood hypotonia, intellectual disability, distinctive facial features, and myriad psychiatric and behavioral disturbances. A 24-year-old female patient with childhood hypotonia, developmental delay, and diagnoses of autism spectrum disorder, OCD, and TS refractory to medical management underwent the placement of bilateral ventral capsule/ventral striatum (VC/VS) DBS leads, with clinical improvement. Medical providers and family observed gradual and progressive improvement in the patient's compulsive behaviors, coprolalia, speech, and social interaction. Symptoms recurred when both DBS electrodes failed because of lead fracture and dislodgement, although the clinical benefits were restored by lead replacement. The symptomatic and functional improvements observed in this case of VC/VS DBS for Kleefstra syndrome suggest a novel indication for DBS worthy of further investigation.

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KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies

Clinical Epigenetics ◽

10.1186/s13148-019-0802-2 ◽

2020 ◽

Vol 12 (1) ◽

Cited By ~ 3

Author(s):

William J. Lavery ◽

Artem Barski ◽

Susan Wiley ◽

Elizabeth K. Schorry ◽

Andrew W. Lindsley

Keyword(s):

System Development ◽

Cell Types ◽

Nervous System Development ◽

Syndrome Type ◽

New Family ◽

Histone 3 ◽

Kleefstra Syndrome ◽

Evolutionarily Conserved

AbstractThe type 2 lysine methyltransferases KMT2C and KMT2D are large, enzymatically active scaffold proteins that form the core of nuclear regulatory structures known as KMT2C/D COMPASS complexes (complex of proteins associating with Set1). These evolutionarily conserved proteins regulate DNA promoter and enhancer elements, modulating the activity of diverse cell types critical for embryonic morphogenesis, central nervous system development, and post-natal survival. KMT2C/D COMPASS complexes and their binding partners enhance active gene expression of specific loci via the targeted modification of histone-3 tail residues, in general promoting active euchromatic conformations. Over the last 20 years, mutations in five key COMPASS complex genes have been linked to three human congenital syndromes: Kabuki syndrome (type 1 [KMT2D] and 2 [KDM6A]), Rubinstein-Taybi syndrome (type 1 [CBP] and 2 [EP300]), and Kleefstra syndrome type 2 (KMT2C). Here, we review the composition and biochemical function of the KMT2 complexes. The specific cellular and embryonic roles of the KMT2C/D COMPASS complex are highlight with a focus on clinically relevant mechanisms sensitive to haploinsufficiency. The phenotypic similarities and differences between the members of this new family of disorders are outlined and emerging therapeutic strategies are detailed.

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The first case of Crigler-Najjar syndrome type-1 in Japan

Kanzo ◽

10.2957/kanzo.21.608 ◽

1980 ◽

Vol 21 (5) ◽

pp. 608-615

Author(s):

Noboru KAWADE ◽

Takashi ICHIKI ◽

Takao NOMURA ◽

Morihiko FUJIKAKE ◽

Takeshi YAMAKAWA ◽

...

Keyword(s):

Syndrome Type ◽

First Case

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Challenges in the Diagnostic Conceptualization of CRPS-1 (Formerly Conceptualized as RSD)

Guides Newsletter ◽

10.1001/amaguidesnewsletters.2006.marapr01 ◽

2006 ◽

Vol 11 (2) ◽

pp. 1-3, 9-12

Author(s):

Robert J. Barth ◽

Tom W. Bohr

Keyword(s):

Clinical Practice ◽

Complex Regional Pain Syndrome ◽

Somatoform Disorders ◽

International Association ◽

Pain Syndrome ◽

Somatoform Disorder ◽

Syndrome Type ◽

Previous Issue

Abstract From the previous issue, this article continues a discussion of the potentially confusing aspects of the diagnostic formulation for complex regional pain syndrome type 1 (CRPS-1) proposed by the International Association for the Study of Pain (IASP), the relevance of these issues for a proposed future protocol, and recommendations for clinical practice. IASP is working to resolve the contradictions in its approach to CRPS-1 diagnosis, but it continues to include the following criterion: “[c]ontinuing pain, which is disproportionate to any inciting event.” This language only perpetuates existing issues with current definitions, specifically the overlap between the IASP criteria for CRPS-1 and somatoform disorders, overlap with the guidelines for malingering, and self-contradiction with respect to the suggestion of injury-relatedness. The authors propose to overcome the last of these by revising the criterion: “[c]omplaints of pain in the absence of any identifiable injury that could credibly account for the complaints.” Similarly, the overlap with somatoform disorders could be reworded: “The possibility of a somatoform disorder has been thoroughly assessed, with the results of that assessment failing to produce any consistencies with a somatoform scenario.” The overlap with malingering could be addressed in this manner: “The possibility of malingering has been thoroughly assessed, with the results of that assessment failing to produce any consistencies with a malingering scenario.” The article concludes with six recommendations, and a sidebar discusses rating impairment for CRPS-1 (with explicit instructions not to use the pain chapter for this purpose).

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