Presentation at Age >18 Months: Causes & Reasons

Possible Causes for Presentation at Age >18 Months

• Children with type 3 SMA (Kugelberg-Welander disease) and those with type 4 SMA present after age 18 months and after 5 years, respectively. [neurologytimes.com]

age 18 months. [1, 2, 3] SMAs were first described in the 1890s, by Guido Werdnig, a physician from the University of Vienna, in his lecture "On a Case of Muscular Dystrophy [emedicine.medscape.com]

Kugelberg Welander spinal muscular atrophy (also known as Wohlfart-Kugelberg-Welander syndrome or mild SMA) is a milder form of SMA, with symptoms typically presenting after [emedicine.medscape.com]

Hoffmann Syndrome

[…] of presentation is between 18 months and 10 years, neonatal presentation has also been reported. [ijem.in]

Clinical description The syndrome usually presents between 18 months and 10 years but has been reported at earlier ages including during the neonatal period. [orpha.net]

Alternating Hemiplegia of Childhood

Alternating hemiplegia of childhood (AHC) is a rare neurological disorder which usually presents before 18 months of age and is characterised by recurrent alternating episodes [ncbi.nlm.nih.gov]

Mean present age was 10.0 years (range 1-16). Mean age at presentation was 7.4 months (range 1-18 months). [ncbi.nlm.nih.gov]

It typically presents before the age of 18 months. [en.wikipedia.org]

Neonatal 6q24-Related Transient Diabetes Mellitus

18 months. [ncbi.nlm.nih.gov]

The cardinal features are: severe intrauterine growth restriction, hyperglycemia that begins in the neonatal period in a term infant and resolves by age 18 months, dehydration [ncbi.nlm.nih.gov]

Macroglossia and umbilical hernia may be present. 6q24-TNDM associated with a multilocus imprinting disturbance (MLID) can be associated with marked hypotonia, congenital [ncbi.nlm.nih.gov]

Staphylococcal Pneumonia

Primary staphylococcal pneumonia was diagnosed in 61 infants (median age, 6 months) and secondary pneumonia (disseminated disease) was present in 18 children (median age, [ncbi.nlm.nih.gov]

GLUT1 Deficiency Syndrome

Episodes started before age 6 months in 15/18 patients (83%), and preceded the onset of seizures in 10/16 patients (63%) who experienced both types of episodes. [ncbi.nlm.nih.gov]

Results: A documented history of paroxysmal abnormal eye movements was found in 32/101 patients (32%), and a detailed description was available in 18 patients, presented here [neurology.org]

A documented history of paroxysmal abnormal eye movements was found in 32/101 patients (32%), and a detailed description was available in 18 patients, presented here. [ncbi.nlm.nih.gov]

Mitochondrial Trifunctional Protein Deficiency

A moderately severe form, with onset usually from the neonatal period to 18 months of age, presents primarily with hypoketotic hypoglycemia and metabolic acidosis which is [orpha.net]

Exudative Pharyngitis

The study included all consecutive patients between 18 and 65 years of age presenting with acute exudative pharyngitis, sore throat, odynophagia, or a combination, and with [ncbi.nlm.nih.gov]

A prospective, randomized, double-blinded, placebo-controlled clinical trial was undertaken over a 3-month period in a university-based Emergency Department. [ncbi.nlm.nih.gov]

Adult Spinal Muscular Atrophy

Type II Spinal Muscular Atrophy typically presents with weakened muscles between six and 18 months of age. [babymed.com]

SMA III (chronic SMA, Kugelberg-Welander disease) presents with the onset of symptoms after the age of 18 months. [encyclopedia.com]

Solitary Rectal Ulcer Syndrome

We report our experience with 3 patients; two boys presented at a very young age (18 and 24 months, respectively) with a clinical picture simulating inflammatory bowel diseases [ncbi.nlm.nih.gov]

Abstract A retrospective analysis of the clinical profile, endoscopic features and management of 22 children (age 18 months-18 years) diagnosed as solitary rectal ulcer syndrome [ncbi.nlm.nih.gov]

The other patient was a fifteen-year-old girl presenting with severe rectal stricture as a result of the syndrome, which is the first to be reported in the paediatric literature [ncbi.nlm.nih.gov]

Disorder of Lipid Metabolism

Late infantile forms of MLD, which is most common, usually present in infants aged 12-18 months with irritability, inability to walk, and hyperextension of the knee, causing [emedicine.medscape.com]

Patients who are severely affected usually present in the first year of life with developmental delay and somatic features, similar to those of mucopolysaccharidoses. [emedicine.medscape.com]

Infantile forms of Krabbe disease are rapidly progressive and present early in infancy with irritability, spasms upon noise stimulation, recurrent episodes of unexplained [emedicine.medscape.com]

Spinal Muscular Atrophy Type 2

• Children with type 3 SMA (Kugelberg-Welander disease) and those with type 4 SMA present after age 18 months and after 5 years, respectively. [neurologytimes.com]

Results: Twenty-six patients between 2 months and 18 years of age at presentation were analyzed; 15 (58%) were males. [scielo.conicyt.cl]

SMA III (chronic SMA, Kugelberg-Welander disease) presents with the onset of symptoms after the age of 18 months. [encyclopedia.com]

Bezold's Abscess

We present a case of Bezold's abscess occurring in a child aged 18 months. The literature is reviewed and methods to accurately diagnose this complication are emphasized. [ncbi.nlm.nih.gov]

We present a case of Bezold's abscess occurring in a child aged 18 months. [biomedsearch.com]

Infantile Neuroaxonal Dystrophy

Two Sudanese siblings presented, at ages 18 and 24 months, with regression in both motor milestones and speech development and hyper-reflexia. [ncbi.nlm.nih.gov]

Earliest symptoms presented between 6 and 18 months of age. The first manifestations were arrest in the acquisition of milestones or regression. [ncbi.nlm.nih.gov]

Traumatic Asphyxia

We report 3 cases in patients 18, 20, and 36 months of age who presented signs and symptoms of traumatic asphyxia after car accidents. [ncbi.nlm.nih.gov]

Neutral Lipid Storage Disease

On presentation at 18 months of age, she showed generalized non-bullous ichthyosiform erythroderma with accentuation at the flexures, palms, soles, face, and scalp [Figure [jpgmonline.com]

Patients who are severely affected usually present in the first year of life with developmental delay and somatic features, similar to those of mucopolysaccharidoses. [emedicine.medscape.com]

Pyle's Disease

She presented at the age of 18 months with genu valgum. [deepdyve.com]

Central Nervous System Primitive Neuroectodermal Tumor

[…] before or at delivery), neonatal tumours (presenting between birth and 2 months of age), and infantile (presenting between 2 and 12 months of age). [fn.bmj.com]

[…] at an earlier age than did sporadic cases (median age, approximately 5 months vs. 18 months) and were more likely to present with multiple tumors.[ 5 ] One parent was found [northshore.org]

Only 18% of those tumours presenting in the first year of life are diagnosed before or at delivery. 5 The commonest modes of presentation of these truly congenital tumours [fn.bmj.com]

Brodie Abscess

[…] between the epiphysis and metaphysis is present until age 18 months, as described by Trueta. [6] Epiphyseal lesions may also occur in older adolescents when the growth plate [emedicine.medscape.com]

Anatomy Interconnecting subacute osteomyelitis of the epiphysis and metaphysis is readily explainable in infants younger than 18 months, when one considers that vascular communication [emedicine.medscape.com]

Chronic Constrictive Pericarditis

This report presents a case of tetralogy of Fallot who presented with heart failure at young age of 18 months. [ncbi.nlm.nih.gov]

Prostate Rhabdomyosarcoma

He presented at age 18 months with abdominal distension and bilateral hydronephrosis due to outflow tract obstruction. [ashg.org]

Tunica Vaginalis Hydrocele

Surgery is recommended if the hydrocele is still present after 12 - 18 months of age. Differential Diagnosis List Final Diagnosis Congenital hydrocele [eurorad.org]

Surgery is recommended if the hydrocele is still present after 18 months- 2 years of age. Hydroceles that continue to get larger are symptomatic and should be fixed. [pediatricurology.in]

Surgery is recommended in a child if the hydrocele is still present after 18 months- 2 years of age. [pediatricurology.in]

Cryopyrin-Associated Periodic Syndrome

We describe a patient with severe cryopyrin-associated periodic syndrome who presented at age 18 months with macrocephaly and moderate sensorineural hearing loss, later developing [ncbi.nlm.nih.gov]

Distal Spinal Muscular Atrophy Type 3

Most children present between the ages of 6 to 18 months. The most common manifestation that parents and physicians note is developmental motor delay. [ispub.com]

SMA III (chronic SMA, Kugelberg-Welander disease) presents with the onset of symptoms after the age of 18 months. [encyclopedia.com]

Muscular weakness is present on both sides of the body, and the legs are more severely affected than the arms. [encyclopedia.com]

Generalized Epilepsy with Febrile Seizures Plus

Febrile seizures most commonly present at the age of 18 months with about 80% of incident febrile seizures occurring between 1 and 3 years of age 1, 2. [centogene.com]

[…] status; (iii) Age <18 months; (iv) Complex features; (v) Uncertain home situation; (vi) Unclear follow up. [indianpediatrics.net]

The AAP strongly recommends LP in patients under 12 months of age presenting with fever and seizure because meningeal signs may be minimal or absent in this age group. [indianpediatrics.net]

Foreign Body Aspiration

RESULTS: Three children presented with airway foreign body and required ECMO for successful removal. Mean age was 18 months. [ncbi.nlm.nih.gov]

RESULTS: The children (62.34% males and 37.65% females) were aged 4 months to 18 years with 66% between 1 and 3 years. Choking was related in 65% of cases. [ncbi.nlm.nih.gov]

Results: Th e children (62.34% males and 37.65% females) were aged 4 months to 18 years with 66% between 1 and 3 years. Choking was related in 65% of cases. [pediatrics.conferenceseries.com]

Oculo-Palato-Cerebral Syndrome

Generalized hypotonia was present with moderate developmental delay. At the age of 18 months he developed seizures. [scielo.br]

A high forehead, large ears, high root nose, prominent eyes, and micrognathia gave him an unusual facial appearance that improved with age (Figures 1 and 2). [scielo.br]

Hyper-IgE Syndrome

An eczematous dermatitis was almost always present before the age of 18 months (95% of patients) and was mainly confined to the face, scalp, chest, and buttocks. [ncbi.nlm.nih.gov]

All patients presented with infected dermatitis (Staphylococcus aureus) and 59% had chronic candidiasis of the oral mucosa and nails. [ncbi.nlm.nih.gov]

Bladder Scarring

Vesico-ureteric reflux was present in 18 patients by 1 month of age (28%) and in 29 patients by 5 years of age (45%). New renal cortical scars developed in 9 patients. [ncbi.nlm.nih.gov]

Opsoclonus-Myoclonus Syndrome

Mean age at presentation was 18 months (range 3-42 months). Fifteen families consented to participate in the study. [ncbi.nlm.nih.gov]

Mean age at presentation was 18 months (range 3-42 months). Fifteen families consented to participate in the study. Atypical featu... [ora.ox.ac.uk]

OMS of childhood is found in 2–3% of patients with NT with a median age of presentation of 18–22 months [6,10]. [tandfonline.com]