scholarly journals Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Failure To Thrive ◽  
Deficiency Syndrome ◽  
Feeding Difficulties

scholarly journals Wolman’s disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Fahad Alabbas ◽  
Ghaleb Elyamany ◽  
Talal Alanzi ◽  
Tahani Bin Ali ◽  
Fatma Albatniji ◽  
...  
Keyword(s):  
Hemophagocytic Lymphohistiocytosis ◽  
Metabolic Disorder ◽  
Clinical Signs ◽  
Failure To Thrive ◽  
Severe Infection ◽  
Signs And Symptoms ◽  
Immune Deficiency Syndrome ◽  
Autoimmune Disorder ◽  
Deficiency Syndrome ◽  
Homozygous Deletion

Abstract Background Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially fatal syndrome that is characterized by strong activation of the immune system from hyperinflammatory cytokines. Symptoms of HLH patients include fever, hepatosplenomegaly, cytopenia, and hyperferritinemia. Inherited HLH is classified as primary, whereas secondary HLH (sHLH) occurs when acquired from non-inherited reasons that include severe infection, immune deficiency syndrome, autoimmune disorder, neoplasm, and metabolic disorder. Wolman’s disease (WD) is a rare and fatal infantile metabolic disorder caused by lysosomal acid lipase deficiency, that exhibits similar clinical signs and symptoms as HLH. This paper reports the case of an infant diagnosed with WD and who presented with sHLH. Case presentation A 4-month-old infant presenting with hepatosplenomegaly, failure to thrive, and other abnormalities. WD diagnosis was confirmed by the presence of the LIPA gene homozygous deletion c.(428 + 1_967-1)_(*1_?)del. The infant also met the HLH-2004 diagnostic criteria. Conclusions Metabolic disorder such as WD should be investigated in infants fulfilling the HLH criteria to diagnose the underlying condition. More studies are needed to understand the link between WD and sHLH and to identify appropriate therapies.

scholarly journals Successful Management of Feeding Difficulties in Patient with Severe Bilateral Cleft Lip and Palate

2014 ◽  
Vol 4 (2) ◽  
pp. 124-126
Author(s):  
Dimple Padawe ◽  
Vilas Takate ◽  
Tanay Gunjikar
Keyword(s):  
Cleft Lip ◽  
Developmental Disorder ◽  
Cleft Lip And Palate ◽  
Failure To Thrive ◽  
Later Life ◽  
Successful Management ◽  
Feeding Difficulties ◽  
Psychological Maladjustment ◽  
Bilateral Cleft Lip ◽  
Feeding Plate

ABSTRACT Cleft lip and palate is one of the most common developmental disorder found in humans. A child born with cleft lip and palate has plethora of complex problems, such as feeding difficulties, middle ear diseases, dentofacial abnormalities, slow weight gain, and even failure to thrive. Feeding difficulties are the main cause of distress for both the child and mother, and may also lead to psychological maladjustment of child in later life. Various methods have been described to overcome feeding difficulties faced child and mother. This case report describes a case of severe bilateral cleft lip and palate (Veau's class IV cleft) successfully managed by fabrication of simple feeding plate and counseling of mother. How to cite this article Padawe D, Takate V, Gunjikar T. Successful Management of Feeding Difficulties in Patient with Severe Bilateral Cleft Lip and Palate. J Contemp Dent 2014; 4(2):124-126.

Aryepiglottoplasty for laryngomalacia: 100 consecutive cases

2001 ◽  
Vol 115 (1) ◽  
pp. 35-38 ◽  
Author(s):  
S. C. Toynton ◽  
M. W. Saunders ◽  
C. M. Bailey
Keyword(s):  
Complication Rate ◽  
Neurological Disease ◽  
Failure To Thrive ◽  
Indications For Surgery ◽  
Airway Compromise ◽  
Feeding Problems ◽  
Street Hospital ◽  
Feeding Difficulties ◽  
Great Ormond Street Hospital ◽  
Feeding Difficulty

A retrospective review of the notes of 100 consecutive patients who had undergone aryepiglottoplasty for laryngomalacia, at Great Ormond Street Hospital for Children, was undertaken. Fifty-six were male, 44 female and 47 were under three months of age. Indications for surgery were oxygen desaturation below 92 per cent and feeding difficulties causing failure to thrive. Forty-seven patients had other pathology contributing to their airway compromise or feeding problems. Improvement in stridor after one month was achieved in 86/91 (94.5 per cent) being abolished completely in 50/91 (55 per cent). Of the 25 per cent of patients whose symptoms took more than one week to resolve, 16/22 (63.6 per cent) were later found to have a serious neurological condition. Feeding was improved in 42 of 58 patients (72.4 per cent) who had a pre-operative feeding difficulty. The complication rate was low, with only five out of 86 (10 per cent) experiencing initial worsening of the airway and six per cent having aspiration of early feeds before improvement occurred.Endoscopic aryepiglottoplasty remains the operation of choice for patients with severe laryngomalacia, however, in the presence of neurological disease surgery is less likely to be successful.

scholarly journals Vallecular cyst in an infant with stridor: a case report

2018 ◽  
Vol 6 (1) ◽  
pp. 58-62
Author(s):  
Nabin Lageju ◽  
Rajendra Prasad Sharma Guragain
Keyword(s):  
Case Report ◽  
Ct Scan ◽  
Cystic Lesion ◽  
Failure To Thrive ◽  
Surgical Excision ◽  
Infants And Children ◽  
Solid Component ◽  
Feeding Difficulties ◽  
The Right ◽  
In Infants And Children

Background and Objectives: Vallecular cysts are rare and generally asymptomatic. In infants and children they present with stridor, feeding difficulties, failure to thrive. Treatment is surgical excision with cautery or laser.Presentation of Case: We discuss the clinical, radiological presentation of a 7 months old child with vallecular cyst which was surgically treated with deroofing and marsupialisation with elecrocautery. There was no recurrence even up 2 years of follow-up.Discussion: Flexible nasopharyngolaryngoscopic examination was done which showed present of swelling in the left vallecula pushing the epiglottis posteriorly and to the right with narrowed normal endolarynx. Radiological investigations with CT scan showed cystic lesion noted in left side of neck with no septation and solid component. The lesion was extending to ipsilateral vallecula and paraglottic region with narrowing of endolarynx.Conclusion: Vallecular cyst is rare cause of noisy breathing in infants and children. In adults it is usually asymptomatic. Treatment of choice is marsupialization with electrocautery or laser.

Gastrointestinal abnormalities: A significant cause of feeding difficulties and failure to thrive in Brachmann-de Lange syndrome

1993 ◽  
Vol 47 (7) ◽  
pp. 1029-1034 ◽  
Author(s):  
Marilyn J. Bull ◽  
Joseph F. Fitzgerald ◽  
Stephen A. Hiefetz ◽  
Timothy J. Brei
Keyword(s):  
Failure To Thrive ◽  
Feeding Difficulties ◽  
Gastrointestinal Abnormalities

Asparagine Synthetase Deficiency with Intracranial Hemorrhage Can Mimic Molybdenum Cofactor Deficiency

2020 ◽  
Author(s):  
Ghada M. H. Abdel-Salam ◽  
Mohamed S. Abdel-Hamid
Keyword(s):  
Brain Edema ◽  
Intracranial Hemorrhage ◽  
Deficiency Syndrome ◽  
Molybdenum Cofactor ◽  
Asparagine Synthetase ◽  
Synthetase Deficiency ◽  
Molybdenum Cofactor Deficiency ◽  
Feeding Difficulties ◽  
Asparagine Synthetase Deficiency ◽  
Cofactor Deficiency

AbstractHere we report a consanguineous Egyptian family with two siblings presented with congenital microcephaly, early-onset epileptic encephalopathy, feeding difficulties, and early lethality. The condition was initially diagnosed as molybdenum cofactor deficiency as the brain imaging for one of them showed brain edema and intracranial hemorrhage in addition to the hypoplastic corpus callosum, vermis hypoplasia, and small-sized pons. Subsequently, whole exome sequencing identified a novel homozygous missense variant in exon 4 of ASNS gene c.397_398GT > CA (p.Val133Gln) confirming the diagnosis of asparagine synthetase deficiency syndrome. No discernible alternative cause for the intracranial hemorrhage was found. Our patient is the second to show asparagine synthetase deficiency and intracranial hemorrhage, thus confirming the involvement of ASNS gene. As such, it is important to consider asparagine synthetase deficiency syndrome in patients with microcephaly, brain edema, and neonatal intracranial hemorrhage.

Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region

2020 ◽  
Vol 160 (4) ◽  
pp. 185-192
Author(s):  
Beth Kirk ◽  
Mira Kharbanda ◽  
Mark S. Bateman ◽  
David Hunt ◽  
Emma-Jane Taylor ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Dosage Compensation ◽  
Learning Difficulties ◽  
Failure To Thrive ◽  
Interstitial Deletion ◽  
Speech Delay ◽  
Normal Range ◽  
Feeding Difficulties ◽  
Mother And Daughter ◽  
Normal Cognition

A phenotype is emerging for the proximal pair of G-dark bands in 11q (11q14.1 and q14.3) but not yet for the distal pair (11q22.1 and q22.3). A mother and daughter with the same directly transmitted 12.3-Mb interstitial deletion of 11q21q22.3 (GRCh37: 93,551,765-105,817,723) both had initial feeding difficulties and failure to thrive, speech delay, learning difficulties, and mild dysmorphism. Among 17 patients with overlapping deletions, developmental or speech delay, dysmorphism, hypotonia, intellectual disability or learning difficulties, short stature, and coloboma were each found in 2 or more. These results may provide the basis for a consistent phenotype for this region. Among the 53 deleted and additional breakpoint genes, CNTN5, YAP1, and GRI4 were the most likely candidates. Non-penetrance of haploinsufficient genes and dosage compensation among related genes may account for the normal cognition in the mother and variable phenotypes that can extend into the normal range.

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