scholarly journals A Case Report of 2.5 Years Old, Male Child with Megalencephaly with Mental Retardation, Seizure Disorder, and GERD

Author(s):  
Edwin Dias

A child of 2.5 years old had an intractable seizure, clinically had megalencephaly and mental retardation. On evaluation, video EEG showed fronto-central seizures and dysfunction R 1, scalp EEG showed bilateral paroxysmal bursts, MRI brain showed prominent vascular spaces in the hemisphere, GE reflux scan showed GERD. Other investigations were within normal limits. The child was treated with antiepileptics and antireflux measures and also rehabilitation.

2001 ◽  
Vol 43 (11) ◽  
pp. 731 ◽  
Author(s):  
Shanti Thirumalai ◽  
Bassel Abou-Khalil ◽  
Toufic Fakhoury ◽  
Gautham Suresh

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.


1993 ◽  
Vol 30 (2) ◽  
pp. 135-137 ◽  
Author(s):  
David Tinkelman ◽  
Edward Goldstein ◽  
Edith Pilzer

2014 ◽  
Vol 7 ◽  
pp. CCRep.S20086 ◽  
Author(s):  
Marilyn N. Bulloch

Background Iodine is a naturally occurring element commercially available alone or in a multitude of products. Iodine crystals and iodine tincture are used in the production of methamphetamine. Although rarely fatal, iodine toxicity from oral ingestion can produce distressing gastrointestinal symptoms and systemic symptoms, such as hypotension and tachycardia, from subsequent hypovolemia. Objective The objective of this case report is to describe a case of iodine toxicity from suspected oral methamphetamine ingestion. Case Report A male in his early 20′s presented with gastrointestinal symptoms, chills, fever, tachycardia, and tachypnea after orally ingesting a substance suspected to be methamphetamine. The patient had elevated levels of serum creatinine, liver function tests, and bands on arrival, which returned to within normal limits by day 4 of admission. Based on the patient's narrow anion gap, halogen levels were ordered on day 3 and indicated iodine toxicity. This is thought to be the first documented case of iodine toxicity secondary to suspected oral methamphetamine abuse. Conclusion Considering that the incidence of methamphetamine abuse is expected to continue to rise, clinicians should be aware of potential iodine toxicity in a patient with a history of methamphetamine abuse.


PEDIATRICS ◽  
1987 ◽  
Vol 79 (6) ◽  
pp. 1024-1026
Author(s):  
LUIS A. ALVAREZ ◽  
SHLOMO SHINNAR ◽  
SOLOMON L. MOSHÉ

Infantile spasms are an age-specific seizure disorder that occur in infants with no known underlying disorder or prior neurologic insult (cryptogenic group) as well as in infants with a variety of genetic disorders or known prior neurologic insult (symptomatic group).1-8 The presence of infantile spasms is associated with a high incidence of developmental retardation (87%)3 even in previously normal infants.3,5-7 Although there are many contradictory studies, it is generally believed that the infants in the symptomatic group, especially those with abnormal findings on neurologic examination prior to the onset of the seizures, have a significantly higher incidence of mental retardation and epilepsy than the infants in the cryptogenic group.1-9


2021 ◽  
Vol 11 (6) ◽  
pp. 231-233
Author(s):  
Nimitha K J ◽  
Porimita Chutia ◽  
Pooja Misal

Constipation is one major complaint in elderly population. It may be due to physiological and anatomical reasons of aging, but it can be also due chronic medical and mental illnesses and due to use of multiple medications. Constipation itself is a precipitating factor for delirium. Drugs used for constipation can also be the culprit. A 64-year-old female who had a history of hypertension and chronic constipation presented with symptoms of confused and altered behavior, decreased oral intake, decreased sleep. On history taking it was known that she was using Herbal medication containing senna glycoside and other compounds since 8-9months. On examination she had signs of dehydration, disoriented and attention was impaired. On investigation her serum sodium was 122.6 mmol/ and other investigations were within normal limits. She was diagnosed as a case of Delirium according to ICD-10 criteria. Her dehydration was corrected by giving intravenous fluids and serum sodium level was corrected using salt capsules 2 tablets thrice daily. For disturbed sleep she was prescribed Tab Melatonin 10mg at bedtime and constipation was treated with per rectal enema and syrup lactulose 30ml at bedtime. Patient improved in 1 week time. Senna a herbal laxative used to treat constipation. It can alter intestinal electrolyte transportation and irritates intestinal mucosa. It is due to increased peristalsis and increased defecation and even diarrhea Prolonged use can cause dehydration, electrolyte imbalance and delirium. Senna, an over-the-counter laxative with FDA approval is a matter of concern in the current scenario. This case report warns into the judicious use of laxatives containing senna in elderly population. Key words: Delirium, Herbal Laxative, Senna, Constipation.


2017 ◽  
Vol 06 (02) ◽  
pp. 122-125
Author(s):  
Saurabh Verma ◽  
M. Sridhar ◽  
S. Shashivadhanan ◽  
Manish Garg

AbstractIt is a rare and underdiagnosed entity. The adagium “one only sees what one knows” is certainly true in cases of Blake's pouch cyst, as all types of posterior fossa cysts and cyst-like malformations may present nearly identical on initial imaging studies. Only one case of Blake's pouch cyst has been reported from this country, except for a case in utero, in which a diagnosis of Blake's pouch cyst was made on prenatal ultrasound and later confirmed by MRI. In this report we describe a case of Blake's pouch cyst in a 9-month-old male child along with the principles of diagnosis of Blake's pouch cyst, in combination with literature review. Differentiating Blake's pouch cyst from other posterior fossa cysts and cyst-like malformations and recognizing the accompanying hydrocephalus that are essentially noncommunicating have important implications not only on clinical management but also on genetic counseling, which is unnecessary in case of Blake's pouch cyst.


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